HEAD AND NECK

BARAITSER-WINTER SYNDROME 1, EPISODIC ATAXIA, TYPE 5, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONE-ROD DYSTROPHY, X-LINKED, 3, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, SPINOCEREBELLAR ATAXIA 14, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, ?DYSTONIA 23, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PSEUDOHYPOPARATHYROIDISM IC, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PEUTZ-JEGHERS SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, NOONAN SYNDROME 9, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, AURICULOCONDYLAR SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, KEPPEN-LUBINSKY SYNDROME, LOEYS-DIETZ SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, ANDERSEN SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 11, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ?SPINOCEREBELLAR ATAXIA 26, DEAFNESS, AUTOSOMAL DOMINANT 20/26, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, QUESTION MARK EARS, ISOLATED, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DIAMOND-BLACKFAN ANEMIA 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PLIN1, NRAS, TGFBR1, DLG3, GNAI3, GNAQ, TP53, MPDZ, MAP2K2, KCNJ6, ACTG1, KCNJ5, DRD2, PRKACA, PIK3R2, CACNA1B, TUBA1A, ATM, CACNA1C, PDE4D, SYN1, KRAS, CACNA2D4, EEF2, AGT, CASK, EDNRA, PRKAG2, MEF2C, PPP2R1A, GRIN2B, PRKAR1A, BMP4, PIK3CD, MTOR, ECHS1, AKT1, BTK, SMARCB1, ITPR2, SOS1, CCND1, STK11, IL6, PARK2, CACNA1F, EPS8, FH, CACNA1S, GNAS, NPR2, PRKCG, GP6, CACNA1D, ITPR1, CABP4, PIK3CA, KCNJ2, EDN1, HRAS, EGFR, CACNB4, RPS19, RYR1, ATIC, ACTB, SOS2, ADCY6, PIK3R5, RPS6KA3, STAT3, ADCY1, ADCY5, PLCB4, PRKACG, RUNX2, DMD, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, ATROPHODERMA VERMICULATUM, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 4, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CORNEAL DYSTROPHY, AVELLINO TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GLANZMANN THROMBASTHENIA, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, LIMB-MAMMARY SYNDROME, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, DEJERINE-SOTTAS DISEASE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TOOTH AGENESIS, SELECTIVE, 7, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, MACULAR DYSTROPHY, PATTERNED, 2, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MACULAR DYSTROPHY, RETINAL, 2, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, RETINITIS PIGMENTOSA 38, SPINOCEREBELLAR ATAXIA 15, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, OCULOECTODERMAL SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, HYPERFERRITINEMIA-CATARACT SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, FILS SYNDROME, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, BLEEDING DISORDER, PLATELET-TYPE, 15, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EXUDATIVE VITREORETINOPATHY 1, OSTEOGENESIS IMPERFECTA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TIETZ ALBINISM-DEAFNESS SYNDROME, TARSAL-CARPAL COALITION SYNDROME, FRAXE, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, DYSTONIA 9, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, LADD SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, CHOROID PLEXUS PAPILLOMA, SCHOPF-SCHULZ-PASSARGE SYNDROME, SERKAL SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, LOEYS-DIETZ SYNDROME 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SED CONGENITA, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CORNELIA DE LANGE SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, LISSENCEPHALY 3, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, CORNEAL FLECK DYSTROPHY, AYME-GRIPP SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LEUKOCYTE ADHESION DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CATARACT 21, MULTIPLE TYPES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, CRANIOSYNOSTOSIS, TYPE 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DYSTONIA-PARKINSONISM, X-LINKED, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, ADULT SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, OSTEOGENESIS IMPERFECTA, TYPE XV, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, TOOTH AGENESIS, SELECTIVE, 4, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, RETINITIS PIGMENTOSA 41, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SECKEL SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CTNNA1, BRCA2, EZH2, CAV1, FGFR1, CD3D, COL1A1, MT-CO2, ACTB, GNAS, IKBKG, COL1A2, MSX1, RPL5, FTL, PPARG, LEP, OTX2, CDH1, WNT5A, AKT2, CDKN2A, NOG, EGR2, PRF1, IKBKAP, MERTK, HLA-DQA1, PIK3CA, TGFBI, SOS1, BMP4, TGFBR2, PDGFRB, SMAD4, ADCY6, MSX2, COL2A1, IL2RG, MUSK, ACTA1, WNT7A, TGFB2, ACVR1, SMARCA4, RUNX1, GLI2, TUBA1A, SERPINA1, CREBBP, WRN, NOTCH1, THRA, IL6, LRP1, BUB1B, MTOR, ADCY1, CD3E, EDA, TAF6, MECP2, PIK3CD, FZD4, NFKBIA, MRE11A, CBL, PRKACG, CCND1, IFNG, PROM1, PIKFYVE, IRF8, WNT1, TGFBR1, ITPR1, TAF1, HSPD1, TNFRSF1A, HGF, ACTA2, WNT10A, GSC, TNFRSF11A, STAT3, ADCY5, AXIN2, PTPRC, INS, LRP6, PITX2, PAX8, GATA1, CAV3, ITGB3, AGL, CTNNB1, EP300, IGF1, DVL3, GDNF, PAX2, HLA-DRB1, TGFB3, FLNA, NFKB2, PPP2R1A, ROR2, BRCA1, ITGB2, AKT1, CCND2, KRAS, DVL1, TNFRSF13C, TP53, EGFR, SLC25A4, IKBKB, IHH, GLI3, POLD1, IL1B, MITF, PTEN, PIK3R5, MAF, ITGA6, PLG, RUNX2, RB1, USH2A, NRAS, SLC2A1, NGF, CD40LG, PAX3, ACTG1, ALB, PIK3R2, TGFB1, WNT3, PTPN11, ATM, SOS2, GATA4, TBP, FGF10, STAT1, TP63, PRKACA, INSR, HLA-B, AKT3, PDGFB, POLE, DNMT1, FGFR2, CD3G, GATA6, PDGFRA, PCNA, ACTN1, APC, HRAS, HLA-DQB1, WNT4, SMAD3, TERT, ATR, HSPG2, PIK3R1, PORCN, GATA2, SHH

CORNEAL DYSTROPHY, LATTICE TYPE I, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 15, REVESZ SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MACULAR DYSTROPHY, PATTERNED, 2, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?CATARACT 45, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, SPINOCEREBELLAR ATAXIA 27, TRIGONOCEPHALY 1, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, HUNTINGTON DISEASE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, GLANZMANN THROMBASTHENIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BARAITSER-WINTER SYNDROME 1, LADD SYNDROME, SEGAWA SYNDROME, RECESSIVE, MENTAL RETARDATION, X-LINKED 19, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, LOEYS-DIETZ SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, OSTEOGLOPHONIC DYSPLASIA, TUMOR PREDISPOSITION SYNDROME, CLEFT PALATE, ISOLATED, OCULOECTODERMAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RENAL TUBULAR DYSGENESIS, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYOPIA 23, AUTOSOMAL RECESSIVE, ALAGILLE SYNDROME, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 24, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, BLEEDING DISORDER, PLATELET-TYPE, 11, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

MPDZ, DLL4, CAV1, ADCY1, RASGRP2, CTNNA1, TH, ACTB, GNAS, ACTN1, F2, KRIT1, AGT, GFAP, GNAI3, OTX2, ITGA2B, UBB, AKT2, FGF3, EPS8, SPTAN1, DNM2, PIK3CA, TGFBI, DUSP6, JAG1, PDGFRB, DRD2, IGF1, ADCY6, ECM1, RBPJ, PTEN, ACTA1, SOX9, ACVR1, KRAS, RUNX1, MAP2K2, NME1, IGF2, NOTCH1, MTOR, EDNRA, MEF2C, LEP, PIK3CD, CBL, CCND1, MET, HTT, GP6, BAP1, HGF, FGF23, RPS6KA3, STAT3, ADCY5, BRAF, INS, JAM3, CAV3, EDN1, TGFBR1, ITGB3, CTNNB1, SMAD4, PAX2, GRIN2B, HES7, RDX, FGF20, ITGB2, AKT1, CCND2, GNAQ, FGFR1, FOXC2, IGF1R, ATXN1, TP53, EGFR, IKBKB, LRPAP1, CDH1, SNCA, FGF17, PRKCG, EFNB1, MUSK, FGFR3, PIK3R5, PLG, RUNX2, NRAS, FLNA, FGF14, NGF, ACTG1, PIK3R2, TGFB1, PTPN11, SIPA1L3, FGF10, PCLO, SPRY4, FGF5, KITLG, INSR, AKT3, PDGFB, FGFR2, IL6, PIK3R1, PDGFRA, BDNF, RET, HRAS, LRP2, SMAD3, HSPG2, PLCB4, TINF2, SHH

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RENAL ADYSPLASIA, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, TRICHOMEGALY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ?RENAL HYPODYSPLASIA/APLASIA 2, TRIGONOCEPHALY 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CROUZON SYNDROME, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PARKINSON DISEASE 1, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, SPINOCEREBELLAR ATAXIA 27, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 3, NEPHROTIC SYNDROME, TYPE 8, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LADD SYNDROME, SEGAWA SYNDROME, RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, TUMOR PREDISPOSITION SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, IMMUNODEFICIENCY 33, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYOPIA 23, AUTOSOMAL RECESSIVE, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, MYOTONIC DYSTROPHY 2, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 17, BLEEDING DISORDER, PLATELET-TYPE, 11, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, INCONTINENTIA PIGMENTI, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, KOSAKI OVERGROWTH SYNDROME, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, NEUROFIBROMATOSIS, TYPE 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PAGET DISEASE OF BONE 3, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, MENTAL RETARDATION, X-LINKED 30/47, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, LEOPARD SYNDROME 1, THROMBOCYTOPENIA 5, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

HGF, RASGRP2, TH, CNBP, PRKACA, GNAS, IKBKG, KRIT1, GRIN2B, GFAP, SCARB2, CDK5, OTX2, PTHLH, SNCA, EDN1, PIK3CD, CDKN2A, FGF3, SPTAN1, PLA2G6, PIK3CA, PRKCG, JAG1, ARHGDIA, PDGFRB, IGF1, PRKACG, RBPJ, NF1, ACTA1, FGFR3, KRAS, ERBB3, MAP2K2, LHX3, NME1, SQSTM1, NOTCH1, MTOR, FGFR1, LEP, FGF17, CBL, CCND1, MET, GP6, ITPR1, BAP1, FGF23, FGF5, DUSP6, BRAF, INS, SOS2, TGFBR1, ALDOA, GJA1, SMAD4, ETV6, PAX2, ACVR1, HES7, FGF20, VPS11, AKT1, CCND2, DRD2, FOXC2, IGF1R, RUNX1, TP53, AKT2, IKBKB, LRPAP1, CDH1, RHO, IL1B, HSPA9, EFNB1, TUBB3, PTEN, ECHS1, MUSK, PIK3R5, CHRM3, PLG, NRAS, FLNA, FGF14, NGF, PTS, PIK3R2, TGFB1, PTPN11, TBP, FGF10, SPRY4, STAT3, KITLG, INSR, AKT3, PDGFB, SOS1, FGFR2, PLCG2, IL6, PIK3R1, PAK3, PDGFRA, BDNF, RET, SYNGAP1, HRAS, EGFR, PAX8, FLNB, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, CARASIL SYNDROME, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, WAARDENBURG SYNDROME, TYPE 2D, MULTIPLE SYNOSTOSES SYNDROME 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, LOEYS-DIETZ SYNDROME 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, DIAPHANOSPONDYLODYSOSTOSIS, TRIGONOCEPHALY 1, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, DIAMOND-BLACKFAN ANEMIA 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, MULTIPLE SYNOSTOSES SYNDROME 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PITT-HOPKINS SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, LEBER CONGENITAL AMAUROSIS 17, TARSAL-CARPAL COALITION SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, FACTOR X DEFICIENCY, LIMB-MAMMARY SYNDROME, HAY-WELLS SYNDROME, LADD SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, SYMPHALANGISM, PROXIMAL, 1A, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, SERKAL SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MULLERIAN APLASIA AND HYPERANDROGENISM, CULLER-JONES SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, LOEYS-DIETZ SYNDROME 5, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, OSTEOGENESIS IMPERFECTA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, NEUROFIBROMATOSIS, TYPE 2, ECTOPIA LENTIS, FAMILIAL, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, TUBEROUS SCLEROSIS-1, EXUDATIVE VITREORETINOPATHY 1, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPONDYLOCOSTAL DYSOSTOSIS 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEUKOCYTE ADHESION DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ACROMICRIC DYSPLASIA, ADULT SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SPINOCEREBELLAR ATAXIA 12, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GELEOPHYSIC DYSPLASIA 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

MPDZ, WNT5A, CTNNA1, COL1A1, ACTB, GDF6, COL1A2, CDK5, OTX2, PTHLH, CDH1, PLG, NOG, GDF5, BMP4, BMPER, PRKCG, SNAI2, WNT4, SMAD4, COL2A1, RPS7, ACTA1, WNT7A, NF2, TGFB2, SOX2, ERBB3, GLI2, NOTCH1, FGFR1, EDA, ACTN1, FZD4, CCND1, TGFBR1, EP300, ROR2, PPP2R2B, GSC, TP63, INS, CTNNB1, SOX9, RUNX1, DVL3, PAX2, TGFB3, YAP1, PITX2, VHL, PPP2R1A, KIF1B, RDX, FLNA, ITGB2, AKT1, CCND2, BRCA1, DVL1, AXIN2, TP53, FBN1, IHH, GLI3, HSPA9, PTEN, MUSK, STAT3, RUNX2, DLG3, HTRA1, NGF, PAX3, ACTG1, WNT3, TGFB1, GATA4, FGF10, ACVR1, TCF4, WNT10A, DNMT1, LRP5, WNT1, PCNA, GRIN2B, TBX6, APC, F10, EGFR, SMAD3, TSC1, TGFBR2, PORCN, SHH

ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MYOPATHY, MYOFIBRILLAR, 2, LIMB-MAMMARY SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, HUTCHINSON-GILFORD PROGERIA, LEOPARD SYNDROME 3, AURICULOCONDYLAR SYNDROME 3, EPISODIC ATAXIA, TYPE 2, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PITT-HOPKINS SYNDROME, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRICHOMEGALY, RUBINSTEIN-TAYBI SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MUSCULAR DYSTROPHY, CONGENITAL, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CATARACT 16, MULTIPLE TYPES, LOEYS-DIETZ SYNDROME 3, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, RENAL TUBULAR DYSGENESIS, THANATOPHORIC DYSPLASIA, TYPE I, BLEEDING DISORDER, PLATELET-TYPE, 15, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, SPINOCEREBELLAR ATAXIA 6, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MENTAL RETARDATION, X-LINKED 19, HAY-WELLS SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, ?DYSTONIA 23, CONE-ROD DYSTROPHY, X-LINKED, 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY 33, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ?MYOPATHY, SCAPULOHUMEROPERONEAL, OTOPALATODIGITAL SYNDROME, TYPE I, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, QUESTION MARK EARS, ISOLATED, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYOPIA 23, AUTOSOMAL RECESSIVE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, SPINOCEREBELLAR ATAXIA 27, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DEJERINE-SOTTAS DISEASE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATAXIA-TELANGIECTASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 17, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, NEUROFIBROMATOSIS, TYPE 1, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, PAGET DISEASE OF BONE 3, ADULT SYNDROME, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LADD SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, RETINAL CONE DYSTROPHY 4, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ALEXANDER DISEASE, THROMBOCYTOPENIA 5, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 4, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

MPDZ, CAV1, FGFR1, RASGRP2, TSC2, SQSTM1, IKBKG, CACNA1B, ACTN1, CACNA2D4, AGT, TP63, GFAP, PPARG, INSR, CDK5, CDH1, CTNNB1, PLG, EGR2, PIK3CA, PRKCG, CACNB4, PDGFRB, CREBBP, PRKACG, PTEN, ACTA1, ACE, TGFB2, ECHS1, KRAS, ERBB3, MAP2K2, SP7, NOTCH1, LRP1, CACNA1D, EDNRA, MEF2C, LEP, AKT2, MECOM, CCND1, CRYAB, CACNA1F, ICK, HTT, PDGFRA, TGFBR1, ITPR1, HSPD1, TNFRSF1A, FGF23, BDNF, RPS6KA3, FGF5, DUSP6, BRAF, INS, PITX2, SOS2, ITGB3, CACNA1G, GJA1, SMAD4, DVL3, F13A1, ETV6, PAX2, STAT1, TGFB3, CACNA1A, NFKB2, ACVR1, PPP2R1A, HES7, HRAS, PLK4, AKT1, SOX2, PRKDC, WNT5A, BRCA1, ATXN1, RUNX1, TP53, EPS8, IKBKB, LRPAP1, EDN1, FGF17, IL1B, HSPA9, NF1, FGFR3, RUNX2, NRAS, FLNA, FGF14, NGF, HNRNPK, EIF2B1, NTRK1, ATM, LMNA, TBP, FGF10, TGFB1, SPRY4, STAT3, PRKACA, CACNA1C, TCF4, AKT3, PDGFB, SOS1, FGF3, FGFR2, IL6, PAK3, RPL11, DCN, CACNA1S, PCNA, GRIN2B, FGF20, EGFR, MAPT, SMAD3, ALB, TGFBR2, PIK3R1, FLNB, SHH

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ATAXIA-TELANGIECTASIA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOPSEUDOHYPOPARATHYROIDISM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, THYROID DYSHORMONOGENESIS 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPINOCEREBELLAR ATAXIA 15, RENAL TUBULAR DYSGENESIS, PENDRED'S SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, QUESTION MARK EARS, ISOLATED, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?FIBROMATOSIS, GINGIVAL, 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LOEYS-DIETZ SYNDROME 3, MYOPIA 23, AUTOSOMAL RECESSIVE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AURICULOCONDYLAR SYNDROME 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPINOCEREBELLAR ATAXIA 14, THYROID DYSHORMONOGENESIS 5, NOONAN SYNDROME 4, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, AURICULOCONDYLAR SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, SPINOCEREBELLAR ATAXIA 17, MENTAL RETARDATION, X-LINKED 90, THYROID DYSHORMONOGENESIS 3, DYSTONIA-12, THYROID DYSHORMONOGENESIS 2A, AURICULOCONDYLAR SYNDROME 3, PARKINSON DISEASE 1, PSEUDOHYPOPARATHYROIDISM IA, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, HYPERTHYROIDISM, NONAUTOIMMUNE, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, THYROID DYSHORMONOGENESIS 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

APOE, LRPAP1, DLG3, ADCY1, SLC5A5, SLC26A4, ITPR1, IGF1, CREBBP, GNAS, ATM, TBP, IL6, AGT, MTOR, PPARG, LEP, PRKACA, TG, SNCA, EDN1, GNAQ, ITPR2, SOS1, PAX8, CDKN2A, ATP1A2, AGRN, ATP1A3, HCFC1, PRKCG, DUOXA2, IYD, AKT1, HRAS, LRP2, TSHB, TSHR, RB1, SMAD3, ADCY6, POU1F1, ADCY5, TPO, PRKACG, INS, PLCB4

MULLERIAN APLASIA AND HYPERANDROGENISM, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MYOTONIC DYSTROPHY 1, LUJAN-FRYNS SYNDROME, MYOPIA 23, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, CARDIOFACIOCUTANEOUS SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 3, HAJDU-CHENEY SYNDROME, CAPOS SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PARKINSON DISEASE 1, NOONAN SYNDROME 9, BARAITSER-WINTER SYNDROME 2, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, DYSTONIA-12, DYSTONIA 9, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SERKAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, ?DYSTONIA, JUVENILE-ONSET, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, DARIER DISEASE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, OPITZ-KAVEGGIA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SECKEL SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LATERAL MENINGOCELE SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, ALLAN-HERNDON-DUDLEY SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, AU-KLINE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC16A2, ACE, AR, ITGB3, CTNNB1, TP53, TSC2, MAP2K2, IGF1, ACTG1, ATR, DVL3, AKT3, PIK3R2, KRAS, PIK3CA, NOTCH2, ATM, SOS2, STAT1, SMARCA4, F2, SYN1, DMPK, SNCA, PPARG, PRKACA, ATP1A2, BMP4, AKT2, MTOR, ATP2A2, AKT1, SLC9A1, ITPR2, HNRNPK, CCND1, BRCA1, PLCG2, PIK3CD, SLC2A1, IL6, MED12, THRA, DYRK1A, GATA4, NRAS, PIK3R5, LRPAP1, GATA2, EP300, TBP, GLI3, EDN1, HRAS, MED17, IL1B, ATP1A3, PRKCG, NOTCH3, ACTB, RB1, SMAD3, SMAD4, CREBBP, WNT4, STAT3, PLCB4, PRKACG, NOTCH1, MED13L, PTEN, PIK3R1, SOS1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CORNEAL DYSTROPHY, LATTICE TYPE I, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MULTIPLE SULFATASE DEFICIENCY, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CORTICAL MALFORMATIONS, OCCIPITAL, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CORNEAL DYSTROPHY, AVELLINO TYPE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, TUMOR PREDISPOSITION SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, CANDIDIASIS, FAMILIAL, 9, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, RENAL TUBULAR DYSGENESIS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CAMURATI-ENGELMANN DISEASE, PORETTI-BOLTSHAUSER SYNDROME, AMELOGENESIS IMPERFECTA, TYPE IA, MULTIPLE SYNOSTOSES SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, LYSYL HYDROXYLASE 3 DEFICIENCY, LISSENCEPHALY 5, WAARDENBURG SYNDROME, TYPE 2D, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, PORENCEPHALY 1, WAGNER SYNDROME 1, AURICULOCONDYLAR SYNDROME 3, PSEUDOACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IA, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOPSEUDOHYPOPARATHYROIDISM, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, TRICHOMEGALY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, SPINOCEREBELLAR ATAXIA 27, OSTEOGENESIS IMPERFECTA, TYPE I, ?STEEL SYNDROME, KNOBLOCH SYNDROME 1, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, PIERSON SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CORPUS CALLOSUM, PARTIAL AGENESIS OF, OSTEOGENESIS IMPERFECTA, TYPE IV, SENIOR-LOKEN SYNDROME 6, ALPORT SYNDROME, AUTOSOMAL DOMINANT, CRANIOFRONTONASAL DYSPLASIA, ADAMS-OLIVER SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE III, MEIER-GORLIN SYNDROME 5, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPINOCEREBELLAR ATAXIA 15, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LOEYS-DIETZ SYNDROME 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, RUBINSTEIN-TAYBI SYNDROME, GILLESPIE SYNDROME, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HYPERFERRITINEMIA-CATARACT SYNDROME, PEUTZ-JEGHERS SYNDROME, FOVEAL HYPOPLASIA 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CATSHL SYNDROME, CHOANAL ATRESIA AND LYMPHEDEMA, WEISSENBACHER-ZWEYMULLER SYNDROME, NOONAN SYNDROME 9, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, THANATOPHORIC DYSPLASIA, TYPE I, JOUBERT SYNDROME 5, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, BLEEDING DISORDER, PLATELET-TYPE, 15, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYHRE SYNDROME, TARSAL-CARPAL COALITION SYNDROME, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, ?RENAL HYPODYSPLASIA/APLASIA 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, RABSON-MENDENHALL SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ALPORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HAY-WELLS SYNDROME, MECKEL SYNDROME 4, SEGAWA SYNDROME, RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, CHOROID PLEXUS PAPILLOMA, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, COLE-CARPENTER SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DEAFNESS, AUTOSOMAL DOMINANT 56, ?DEAFNESS, X-LINKED 6, STICKLER SYNDROME, TYPE II, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OCULOECTODERMAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ?MYOSCLEROSIS, CONGENITAL, PROTEUS SYNDROME, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ALAGILLE SYNDROME, SED CONGENITA, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, KNIEST DYSPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, WISKOTT-ALDRICH SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 53, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, STICKLER SYNDROME, TYPE III, ODONTOONYCHODERMAL DYSPLASIA, SCHOPF-SCHULZ-PASSARGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, BLAU SYNDROME, GLAUCOMA 1A, PRIMARY OPEN ANGLE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LISSENCEPHALY 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CLOVE SYNDROME, SOMATIC, AGAMMAGLOBULINEMIA 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPOTRICHOSIS 8, BARAITSER-WINTER SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, FIBROCHONDROGENESIS 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 4, JACKSON-WEISS SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LIMB-MAMMARY SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, ?FIBROMATOSIS, GINGIVAL, 1, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RENAL ADYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DEAFNESS, AUTOSOMAL RECESSIVE 39, ADULT SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, BENT BONE DYSPLASIA SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CROUZON SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, SPINOCEREBELLAR ATAXIA 12, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, DEAFNESS, AUTOSOMAL DOMINANT 13, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MUENKE SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, AMELOGENESIS IMPERFECTA, TYPE IH, RUBINSTEIN-TAYBI SYNDROME 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATAXIA-OCULOMOTOR APRAXIA 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, LADD SYNDROME, LEOPARD SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IC, LOEYS-DIETZ SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, LOEYS-DIETZ SYNDROME 4, WAARDENBURG SYNDROME, TYPE 4C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, MARSHALL SYNDROME

TSC2, IHH, LAMB1, LAMA1, WNT5A, CDK5, APOE, COL1A1, MAP2K2, ACTB, IGBP1, IKBKG, PIK3CA, COL3A1, MAPT, ITGB6, FTL, F2, MAG, AGT, COL11A2, PPARG, CTNNB1, COL5A1, SOX2, OTX2, CDH1, BTK, GJA1, G6PC3, UBB, STK11, WNT10A, PTPN14, NOG, FGF3, ITGA3, ITCH, COL4A5, LAMB2, TH, G6PC, TGFBI, ITGA8, PRF1, COL6A3, JAG1, SNAI2, TGFBR2, SMAD4, CREBBP, CD79B, COL2A1, IL2RG, RBPJ, PDGFRB, ACTA1, WNT7A, EDNRA, TGFB2, F13A1, KRAS, RUNX1, TUBA1A, DRD2, SP7, IGF2, CDK6, NOTCH1, IL6, DAG1, COL6A1, MTOR, FGFR1, LEP, CEP290, PIK3CD, VCAN, CBL, PLOD3, ITGA6, CCND1, MET, COMP, COL4A6, GNAS, RELN, PDGFRA, TGFBR1, ITPR1, HSPD1, BAP1, GHR, HGF, NOTCH3, PPP2R2B, NLRP1, LAMB3, FGF23, HCFC1, GFAP, RPS6KA3, FGF5, DDR2, DUSP6, INS, TNC, PITX2, COL7A1, EDN1, TUBG1, ITGB3, IL7R, SHOC2, BLNK, SERPINH1, EP300, IGF1, COL4A1, VWF, PAX2, INSR, COL17A1, STAT1, MYOC, LAMA3, PCK1, SOX9, VHL, COL4A4, PPP2R1A, GRIN2B, FGF20, BRCA1, AKT1, CCND2, BIN1, LPAR6, PRKDC, FOXC2, IGF1R, WAS, TP53, AKT2, IKBKB, PAX6, COL27A1, COL1A2, LAMC3, CDC6, RHO, FGF17, IL1B, HSPA9, EFNB1, ATIC, PTEN, FGFR3, PIK3R5, NOD2, SOX10, DLX5, PLG, HRAS, STAT3, RUNX2, SUMF1, RB1, NRAS, COL6A2, FLNA, FGF14, SMAD3, NGF, PPP2R5D, INPPL1, LAMC2, PIK3R2, TGFB1, P4HB, PTPN11, SOS2, ITGA2B, COL11A1, ITGB4, TP63, KITLG, PCNA, CD19, IL17RC, AKT3, TBXA2R, SOS1, FGFR2, COL4A3, COL5A2, PIK3R1, DCN, L1CAM, BDNF, COL18A1, ACTN1, EDNRB, LAMA2, EGFR, LRP1, COL25A1, MYH11, ALB, HSPG2, FGF10, TSC1, PDGFB, PROK2, MMP1, SHH

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, IMMUNODEFICIENCY, COMMON VARIABLE, 4, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, AICARDI-GOUTIERES SYNDROME 7, SPINOCEREBELLAR ATAXIA 23, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, {PARKINSON DISEASE 8}, SORSBY FUNDUS DYSTROPHY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, LUJAN-FRYNS SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CLEFT PALATE, ISOLATED, KERATOSIS PALMOPLANTARIS STRIATA I, AD, ODONTOONYCHODERMAL DYSPLASIA, MYOPIA 6, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DYSTONIA-11, MYOCLONIC, CARASIL SYNDROME, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, DANON DISEASE, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, ABLEPHARON-MACROSTOMIA SYNDROME, BRACHIOOTIC SYNDROME 3, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, CHOANAL ATRESIA AND LYMPHEDEMA, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, VELOCARDIOFACIAL SYNDROME, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, ?STEEL SYNDROME, MANDIBULOACRAL DYSPLASIA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, TRICHOMEGALY, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MACULAR DYSTROPHY, RETINAL, 2, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, CORNEA PLANA CONGENITA, RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, FRONTONASAL DYSPLASIA 2, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CRANIOSYNOSTOSIS 3, STRIATONIGRAL DEGENERATION, INFANTILE, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, NEUROFIBROMATOSIS, TYPE 1, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, PSEUDOHYPOPARATHYROIDISM IA, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, KEPPEN-LUBINSKY SYNDROME, VERHEIJ SYNDROME, SEBASTIAN SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, PARAGANGLIOMAS 3, HOLOPROSENCEPHALY-2, CULLER-JONES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MEIER-GORLIN SYNDROME 2, RETINITIS PIGMENTOSA 59, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NESTOR-GUILLERMO PROGERIA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), RETINITIS PIGMENTOSA 60, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, AMELOGENESIS IMPERFECTA, TYPE IA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AGAMMAGLOBULINEMIA 1, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, COWDEN SYNDROME 7, MUENKE SYNDROME, OPITZ-KAVEGGIA SYNDROME, TARP SYNDROME, DYSTONIA 9, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, CEROID LIPOFUSCINOSIS NEURONAL 6, DEAFNESS, AUTOSOMAL DOMINANT 17, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, GLAUCOMA 1A, PRIMARY OPEN ANGLE, WAARDENBURG SYNDROME, TYPE 3, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, PARKINSON DISEASE 19, JUVENILE-ONSET, VAN DEN ENDE-GUPTA SYNDROME, NAIL-PATELLA SYNDROME, RETINAL CONE DYSTROPHY 4, IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, BARBER-SAY SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, LEUKOCYTE ADHESION DEFICIENCY, CRANIOSYNOSTOSIS, TYPE 2, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, DEAFNESS, X-LINKED 5, DUANE-RADIAL RAY SYNDROME, ACROMICRIC DYSPLASIA, COENZYME Q10 DEFICIENCY, PRIMARY, 3, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, KARTAGENER SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, IMMUNODEFICIENCY 9, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 29, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, DEAFNESS, AUTOSOMAL DOMINANT 13, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), UROFACIAL SYNDROME 1, AMELOGENESIS IMPERFECTA, TYPE IH, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, HOLOPROSENCEPHALY-5, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, DIAMOND-BLACKFAN ANEMIA 3, SCHOPF-SCHULZ-PASSARGE SYNDROME, BRACHYOLMIA TYPE 3, IMMUNODEFICIENCY 20, {OROFACIAL CLEFT 6}, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, CORTICAL MALFORMATIONS, OCCIPITAL, ?RETINITIS PIGMENTOSA 67, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, OPTIC ATROPHY 1, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, BONE MARROW FAILURE SYNDROME 1, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, OPTIC ATROPHY PLUS SYNDROME, WATSON SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HOLOPROSENCEPHALY-7, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, PACHYONYCHIA CONGENITA 2, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, WAARDENBURG SYNDROME, TYPE 2D, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FUMARASE DEFICIENCY, PYCNODYSOSTOSIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ALBINISM, OCULOCUTANEOUS, TYPE III, CORNEAL DYSTROPHY, CONGENITAL STROMAL, KABUKI SYNDROME 2, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, AICARDI-GOUTIERES SYNDROME 6, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CORPUS CALLOSUM, PARTIAL AGENESIS OF, {AUTISM, SUSCEPTIBILITY TO, 18}, OSTEOGENESIS IMPERFECTA, TYPE IV, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THYROID DYSHORMONOGENESIS 2A, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CILIARY DYSKINESIA, PRIMARY, 33, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, DIAMOND-BLACKFAN ANEMIA 8, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, CINCA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, SENIOR-LOKEN SYNDROME-1, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, SPINOCEREBELLAR ATAXIA 27, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ARTHROGRYPOSIS, DISTAL, TYPE 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, TARSAL-CARPAL COALITION SYNDROME, FRAXE, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, CORNEAL DYSTROPHY, AVELLINO TYPE, SEGAWA SYNDROME, RECESSIVE, INSOMNIA, FATAL FAMILIAL, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, SYMPHALANGISM, PROXIMAL, 1A, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ADAMS-OLIVER SYNDROME 5, PERRAULT SYNDROME 1, MENTAL RETARDATION, X-LINKED 30/47, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, RETINITIS PIGMENTOSA 37, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, KNOBLOCH SYNDROME 1, TREACHER COLLINS SYNDROME 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, CATARACT 5, MULTIPLE TYPES, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, JACKSON-WEISS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, PARAGANGLIOMAS 4, PRIMARY LATERAL SCLEROSIS, JUVENILE, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, KINDLER SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, NOONAN SYNDROME 10, SPONDYLOPERIPHERAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, MUSCULAR DYSTROPHY, CONGENITAL, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, LUSCAN-LUMISH SYNDROME, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, MICROPHTHALMIA, ISOLATED 8, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPSTEIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, SED CONGENITA, RETINITIS PIGMENTOSA 41, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, PENDRED'S SYNDROME, BRANCHIOOTIC SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COFFIN-SIRIS SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPITHELIAL RECURRENT EROSION DYSTROPHY, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SECKEL SYNDROME 1, MALOUF SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, JOUBERT SYNDROME 5, COMPLEMENT FACTOR I DEFICIENCY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOBETALIPOPROTEINEMIA, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, EPISODIC ATAXIA, TYPE 6, SENIOR-LOKEN SYNDROME 9, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, X-LINKED 46, RETINITIS PIGMENTOSA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 25, EXUDATIVE VITREORETINOPATHY 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 11, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, XERODERMA PIGMENTOSUM, GROUP D, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, LOEYS-DIETZ SYNDROME 4, FAILURE OF TOOTH ERUPTION, PRIMARY, SJOGREN-LARSSON SYNDROME, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MACULAR DYSTROPHY, PATTERNED, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?OPTIC ATROPHY 9, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), POPLITEAL PTERYGIUM SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 1, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, SINGLETON-MERTEN SYNDROME 1, PARTINGTON SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, ANGIOEDEMA, HEREDITARY, TYPE III, ?OSTEOGENESIS IMPERFECTA, TYPE X, CANDIDIASIS, FAMILIAL, 9, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ?LICHTENSTEIN-KNORR SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, LEBER CONGENITAL AMAUROSIS 9, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, LOEYS-DIETZ SYNDROME 5, MYOPATHY, DISTAL, TATEYAMA TYPE, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, IMMUNODEFICIENCY 19, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, SADDAN, DIAMOND-BLACKFAN ANEMIA 9, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, SPINOCEREBELLAR ATAXIA 21, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, DYSKERATOSIS CONGENITA, X-LINKED, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, VAN DER WOUDE SYNDROME, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, ?SECKEL SYNDROME 6, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FILS SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, LEBER OPTIC ATROPHY, EHLERS-DANLOS SYNDROME, TYPE IV, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOPHOSPHATEMIC RICKETS, AR, CORNELIA DE LANGE SYNDROME 2, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, BLEEDING DISORDER, PLATELET-TYPE, 11, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ATELOSTEOGENESIS, TYPE I, AXENFELD-RIEGER SYNDROME, TYPE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, SENIOR-LOKEN SYNDROME 6, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ACHONDROPLASIA, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LISSENCEPHALY 3, SERKAL SYNDROME, PAPILLORENAL SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, THANATOPHORIC DYSPLASIA, TYPE II, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COLE-CARPENTER SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, TOOTH AGENESIS, SELECTIVE, 3, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, CORNELIA DE LANGE SYNDROME 3, ?IMMUNODEFICIENCY 37, PARKINSON DISEASE 20, EARLY-ONSET, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, PRADER-WILLI SYNDROME, HYPOTRICHOSIS 8, OSTEOGENESIS IMPERFECTA, TYPE IX, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 35, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, BETHLEM MYOPATHY 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, TREACHER COLLINS SYNDROME 2, PROUD SYNDROME, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DEAFNESS, AUTOSOMAL DOMINANT 23, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, RENAL ADYSPLASIA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DEAFNESS, AUTOSOMAL RECESSIVE 37, MYOCLONUS, FAMILIAL CORTICAL, CEREBROOCULOFACIOSKELETAL SYNDROME 4, CUTIS LAXA, AD, CONGENITAL DISORDER OF DEGLYCOSYLATION, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, STEATOCYSTOMA MULTIPLEX, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 12, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, LADD SYNDROME, FEINGOLD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, OHDO SYNDROME, X-LINKED, LONG QT SYNDROME 1, APERT SYNDROME, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, {BLEPHAROSPASM, PRIMARY BENIGN}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEOPARD SYNDROME 3, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, THROMBOCYTOPENIA 5, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, PERRAULT SYNDROME 4, ACHROMATOPSIA 7, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, EPISODIC ATAXIA, TYPE 5, BRANCHIOOCULOFACIAL SYNDROME, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, CONE-ROD DYSTROPHY, X-LINKED, 3, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, EMBERGER SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CEREBROCOSTOMANDIBULAR SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, GILLESPIE SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, BARDET-BIEDL SYNDROME 3, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 28, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, EPISODIC ATAXIA, TYPE 2, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, STROMME SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, ADULT SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, TATTON-BROWN-RAHMAN SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 53, OCULODENTODIGITAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MOWAT-WILSON SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, HYPERFERRITINEMIA-CATARACT SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPINOCEREBELLAR ATAXIA 36, CATSHL SYNDROME, URBACH-WIETHE DISEASE, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, BLEEDING DISORDER, PLATELET-TYPE, 15, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, DEAFNESS, AUTOSOMAL DOMINANT 64, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, DEAFNESS, AUTOSOMAL RECESSIVE 70, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, BEARE-STEVENSON CUTIS GYRATA SYNDROME, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, ?RENAL HYPODYSPLASIA/APLASIA 2, SPINOCEREBELLAR ATAXIA 6, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, PARIETAL FORAMINA 1, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?DEAFNESS, X-LINKED 6, STICKLER SYNDROME, TYPE II, ?BARDET-BIEDL SYNDROME 11, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, HOLOPROSENCEPHALY-9, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, TROYER SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, AGAMMAGLOBULINEMIA 2, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, BIRT-HOGG-DUBE SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, JERVELL AND LANGE-NIELSEN SYNDROME 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, NEUROFIBROMATOSIS, TYPE 2, GENITOPATELLAR SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), THYROID DYSHORMONOGENESIS 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ECTOPIA LENTIS, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, EXUDATIVE VITREORETINOPATHY 4, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MECKEL SYNDROME 4, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, DENTIN DYSPLASIA, TYPE II, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, GRISCELLI SYNDROME, TYPE 1, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, FOLATE MALABSORPTION, HEREDITARY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CATARACT 21, MULTIPLE TYPES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, DIAMOND-BLACKFAN ANEMIA 1, ANDERSEN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, CILIARY DYSKINESIA, PRIMARY, 16, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 84A, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 10, DEAFNESS, AUTOSOMAL RECESSIVE 68, TIETZ ALBINISM-DEAFNESS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, RETINITIS PIGMENTOSA 70, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TCF12, CA2, TSC2, HGF, CACNA2D4, SQSTM1, FGFR1, RASGRP2, VARS2, LMNA, NGLY1, CD3E, GP1BA, LBR, GNAS, WNT5A, CNGB1, COL3A1, ATP6V1B1, FTL, PHEX, KRIT1, POR, DOCK7, LRRK2, SLC6A3, PCYT1A, CDC6, CD3D, KDM6A, POLE, AKT2, PTPN14, NOG, DST, ITGA3, PEX13, FH, PHF8, PNPT1, GAS8, HPGD, FZD4, WNK1, GFI1B, SBF1, HPSE2, AFG3L2, CREBBP, PTPRQ, MED25, DYNC2H1, NONO, ALS2, VLDLR, ATRX, LAMP2, KL, ERBB3, DLX5, AR, P4HB, NDUFA1, CD79A, GATAD2B, DNMT3A, THRA, DAG1, BUB1B, CENPF, MTOR, LAMA1, MT-ND6, TAF6, TBXA2R, PIK3CD, GRIN2B, IFNG, MRE11A, AIFM1, STT3A, SMARCE1, CCND1, TALDO1, COMP, TPM2, RPL5, SPARC, AP1S2, VPS33B, ITPR1, GALNT3, HSPD1, ROR2, HTT, NOL3, EZH2, ATP6V1B2, GAD1, PPP2R2B, SUCLG1, RAG2, TP63, DUSP6, NDUFA10, SMC3, NDUFS7, MT-CO1, GATA1, TBX1, CAV3, BANF1, TUBG1, ALDOA, AGL, KCNJ6, CTNNB1, SERPINC1, SUFU, NDUFA12, SETD2, CTSK, PDYN, GDNF, CEP290, IGHM, HDAC6, LRP5, LAMA3, ALDH2, CHRNA1, PQBP1, HSF4, NUP62, GP6, PPP2R1A, KCNQ1, TUBB, NDUFA2, NKX3-2, VPS11, DDR2, RIPK4, LPAR6, AIP, PPIB, UBA1, LHB, DIAPH1, UBE3A, DYRK1A, HOXA11, ZNF423, LRPAP1, TWIST1, KIF11, RECQL4, DNAH1, IL1B, PDE6G, FANCA, HSPA9, ORC1, EFNB1, KAT6A, DMP1, ECHS1, NOD2, ZEB2, LAMB1, EYA1, POLA1, MT-ND4, SLC2A1, IRF8, FGF23, SLC9A1, MASP1, PINK1, SLC46A1, DIABLO, LAMC2, NPHP1, LAMA2, AP4M1, NDUFA9, GATA4, CHD8, SPG7, RARS, SPRY4, FGF5, MT-CO2, HLA-B, COL5A2, WNT10A, SCARF2, SDHD, PTPRC, COL4A3, TUBGCP4, PAK3, NEU1, PDHX, FCGR3A, HLA-DQB1, BDNF, SNRPB, KERA, ADAM17, TBP, CTCF, ATF6, EPS8, ATXN3, POLR3B, PDSS2, PPP1R15B, ALB, FGF10, TSC1, HRAS, EPM2A, DMPK, SKI, TUBA8, CTNNA1, PEX14, SEC23A, PARK7, DSP, APOB, TNFRSF13B, MMP1, MAP2K2, NR4A2, ACTB, GRN, RPS7, COL1A2, ALPL, GFAP, COX6A1, NCF4, ITGA2B, IL7R, HCFC1, MYH7, NDUFS4, PABPN1, COL4A5, IKBKAP, SPTAN1, PROK2, MT-ATP6, GDF5, DES, MT-CO3, TGFBI, MAFB, PRF1, ACY1, S1PR2, JAG1, CACNB4, CACNA1D, EMD, MITF, IGF1, CAPN3, NR2E3, CLDN19, IL2RG, SF3B4, CYB5R3, SOX9, TGFB2, DNAI2, GNAQ, HOXB1, SLC26A4, TFAP2A, ADCY6, SLC17A8, SP7, TRPV4, ACTN1, VWF, NOTCH1, MYCN, ERCC3, SRP72, CORO1A, EDNRA, ECM1, MEF2C, SCARB2, EGR2, CFL2, VCAN, PAX9, MSX2, COL17A1, RPS24, CARD9, CRYAB, RBM10, PTH1R, COL4A6, PIKFYVE, KAT6B, GPX4, TCIRG1, FGFR3, HARS, CACNA1A, ASXL1, DNAJC6, ACTA2, RB1, TNFRSF11A, STAT3, IL17RA, RARB, BRAF, SNAP25, LAMB3, SOS2, ORC4, UCHL1, DPH1, NDUFB3, DNAH8, ADAR, KCNJ5, KRT5, NF2, CBS, F12, KIF2A, CYP27B1, KLC2, EEF2, NFKB2, PLCB4, COL4A4, ALDH3A2, EDNRB, NDN, TNFRSF11B, SOX2, KANSL1, VDR, FOXP1, DVL1, PARK2, APOA1, ETFA, EGFR, WNT4, LRP2, IKBKB, USH2A, ELN, SMC1A, SNCA, PRKCG, MYH2, QDPR, MAF, ESRRB, TUBB4A, DYNC1H1, MT-ND3, SCYL1, COX7B, NDUFV1, POLD1, ISG15, DLG3, CHRNE, SETX, PTS, PAX3, ACTG1, ATP2A2, JAGN1, ASCL1, KCNJ10, RORC, ITGB4, TYMP, PRPF6, CYP1B1, KMT2D, DDX58, EIF2AK3, SPTLC1, STAT1, EXOC8, CACNA1C, ATXN1, NOTCH2, PLG, EFEMP2, MED12, BLM, DNMT1, TAP2, IL6, PIK3R1, DCN, PCSK9, PCNA, NEFL, POLR1C, APC, FLNB, PMPCA, AXIN2, PTPRF, ALOXE3, SMAD3, HSPG2, NLRP3, SURF1, F10, SKIV2L, ATIC, PEX5, PDE4D, F2, ADCY1, PAFAH1B1, FSHB, PRPF31, IGBP1, SALL1, TPI1, RAD21, IFIH1, CDK6, IKBKG, CTSA, MSX1, EFTUD2, ACVRL1, MAG, AGT, SEPT9, CLDN14, GNAI3, LEP, CDK5, TRAPPC2, NOTCH3, PPP1R3A, KDM1A, DNAH5, CDH1, KMT2A, EIF4A3, SOS1, STK11, FGF17, LIPE, IL21R, CDKN1C, BCOR, COL2A1, ARX, PNPLA2, LAMB2, COL1A1, NOP56, PIK3CA, PTPN11, GNAL, WNT1, WAS, DNAI1, GFPT1, COX8A, ST14, GRID2, PRKAG2, GATA3, PRKACG, RBPJ, CTSD, NF1, ARNT2, ACTA1, DNM1, MFN2, GRIP1, SMARCA4, RUNX1, CBL, TWIST2, LZTR1, FIBP, DRD2, AIPL1, IGF2, NEK2, PIK3R2, DCLRE1C, APTX, MAPT, FANCC, GATA2, ERCC6, ADH1C, SDHC, EDA, ATP1A2, NTRK1, RAI1, HNRNPK, ABCA1, TNNT2, DCX, PLOD3, ORAI1, ITGA6, SNCAIP, MET, CACNA1F, ACP5, MPC1, MCPH1, DNM1L, SUCLA2, EEF1A2, NDUFS2, ERCC5, RUNX2, FKBP14, TMEM173, TBX3, TSHB, GSC, POLR1D, CHD7, RPS6KA3, TFG, ERCC8, VCP, AIRE, ALX4, INS, CDON, TYRP1, COL11A2, COL7A1, APOE, ITGB3, DKC1, SMPD1, GLI3, HSD17B10, PDE11A, FOXP2, PITX3, SHANK3, PAX2, LMX1B, HLA-DRB1, SYN1, CNTN1, TGFB1, VHL, OTX2, COL4A1, RAPSN, ARL6, TG, RDX, TNFRSF1A, BRCA1, ITGB2, PTHLH, CNNM2, NGF, ITPR2, FHL1, FOXC2, MT-CYB, FBN1, PEX19, MT-ND1, DCTN1, COL25A1, IHH, RPS10, LAMC3, MYOC, RHO, PDE6B, TERT, TTN, TSHR, RPS19, PTEN, PNKP, F13A1, PIK3R5, LARS2, BTK, GDF2, AHI1, SSR4, HSD17B4, SDHA, TUBB2B, SMARCB1, CD40LG, HDAC8, UBB, STUB1, CLDN16, EIF2B1, WNT3, DNM2, BCL10, HPCA, CENPE, TNFAIP3, PRPF4, MYH9, COL11A1, CLDN1, REN, DMD, ACVR1, KITLG, TCF4, IL17RC, TAF2, PCNT, RP1, PDE10A, DEAF1, SP110, GATA6, DTNBP1, CACNA1S, COL18A1, GRM1, MT-ND4L, ABCC8, MFAP5, NDUFS6, OCLN, HTRA1, BAG3, IRF6, NDUFB11, TPO, TINF2, TUFM, PACS1, PDGFB, DSG1, BRCA2, DLL4, CAV1, POLR1A, PRPF8, TTBK2, SERPINH1, CNBP, PRKACA, RAG1, NDUFA11, PIGT, ERCC1, CDT1, BCAP31, ITGB6, TAP1, DDX3X, SLC1A3, NBN, MYO5A, PPARG, INSR, COL5A1, DSPP, SERPINB6, PRKAR1A, SYNJ1, GAN, EIF2B2, PGK1, TRAF3IP1, SOX10, NR1I3, COL27A1, CDKN2A, ARFGEF2, COX6B1, BMP4, CLASP1, KMT2C, IGLL1, NDUFS8, TGM1, TRIM32, ITGA8, SIX3, ERCC2, SNAI2, PDGFRB, SMAD4, ARHGDIA, POU1F1, NDUFB9, MT-ND2, LRP6, ATP6V0A2, SPAST, PTCH1, WNT7A, DVL3, APOA2, SETD5, TP53, GLI2, PAX6, FLCN, TNC, WRN, AGTR1, ETV6, NFKBIA, GCH1, DRD5, LRP1, COL6A1, DNAL1, TPM3, SDHB, TARDBP, SOX5, CACNA1B, CEP63, LHX3, XRCC4, PTCH2, HELLS, MECOM, SPG20, DHDDS, HLA-DQA1, RPL11, AGRN, PRX, PROM1, SALL4, RELN, FMR1, PDGFRA, TGFBR1, EP300, TAF1, PHOX2A, ARHGEF6, MYO6, ZBTB16, FGF3, NLRP1, OPA1, CTDP1, FERMT1, ADCY5, SEC23B, JAM3, PITX2, PAX8, PLIN1, LARS, EDN1, GPC3, KCNJ11, RAB39B, CACNA1G, GJA1, SMARCA2, PUF60, MYH3, BCS1L, INF2, ZIC2, TBX6, MECP2, MVK, KPTN, TGFB3, DDC, IGFBP7, GCK, HES7, NRAS, SIX1, BLNK, IL1RN, TH, CCND2, KRAS, PRKDC, NDUFS1, PLK4, IGF1R, CFI, TNFRSF13C, LDLR, PHOX2B, SLC25A4, ICOS, MPDZ, TUBA1A, POMT1, AKT1, ITCH, DNMT3B, TUBB3, MUSK, SERPINA1, CHRM3, DDOST, INPPL1, ERLIN2, NR2F1, NMNAT1, SUMF1, TIMP3, SCO2, ACE, NME1, FLNA, DNAJC13, BIN1, HCCS, ATR, KRT17, DHCR7, PRNP, PDHA1, ENTPD1, ATM, FGF14, BRF1, NSD1, SGCE, NEB, POLR3A, CD19, AKT3, NDUFV2, FGFR2, PLCG2, CD3G, HOXA2, COX4I2, L1CAM, MT-ND5, TAPBP, ATP5A1, RET, CABP4, SPTBN2, FGF20, HACE1, ALDH1A3, ACO2, AMPD2, DNAJC3, NHP2, MYH11, NDUFS3, CHKB, TGFBR2, MYH14, MTRR, PORCN, RYR1, SHH

ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 38, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, GLUTARICACIDURIA, TYPE I, CEROID LIPOFUSCINOSIS NEURONAL 6, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, MYOPIA 6, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSKERATOSIS CONGENITA, X-LINKED, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?UROCANASE DEFICIENCY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, RENAL TUBULAR DYSGENESIS, ATAXIA-TELANGIECTASIA-LIKE DISORDER, GAUCHER DISEASE, TYPE IIIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, MUCOPOLYSACCHARIDOSIS II, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ?OPTIC ATROPHY 9, CK SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, ANGELMAN SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, MUCOPOLYSACCHARIDOSIS TYPE IIID, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, GLUTAMINE DEFICIENCY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PARAGANGLIOMAS 3, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, LUSCAN-LUMISH SYNDROME, KLEEFSTRA SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CATARACT 38, AUTOSOMAL RECESSIVE, GALACTOSE EPIMERASE DEFICIENCY, ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPER-IGD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS VII, TRIGONOCEPHALY 1, CILIARY DYSKINESIA, PRIMARY, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, SENGERS SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, DEAFNESS, AUTOSOMAL DOMINANT 17, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, RETINITIS PIGMENTOSA 45, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PEROXISOME BIOGENESIS DISORDER 11B, GABA-TRANSAMINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, LEUKOCYTE ADHESION DEFICIENCY, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MYOPATHY, DISTAL, TATEYAMA TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), UROFACIAL SYNDROME 1, ?SECKEL SYNDROME 8, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, COLE DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MEDNIK SYNDROME, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, TREACHER COLLINS SYNDROME 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, CEREBROOCULOFACIOSKELETAL SYNDROME 4, FARBER LIPOGRANULOMATOSIS, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ALBINISM, OCULOCUTANEOUS, TYPE III, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PSEUDOHYPOPARATHYROIDISM IC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, CLEFT PALATE, ISOLATED, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?PERRAULT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, MYOCLONUS, FAMILIAL CORTICAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THYROID DYSHORMONOGENESIS 2A, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CUTIS LAXA, AUTOSOMAL DOMINANT 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PELGER-HUET ANOMALY, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, GALACTOKINASE DEFICIENCY WITH CATARACTS, COFFIN-SIRIS SYNDROME 3, CATEL-MANZKE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MALOUF SYNDROME, HARP SYNDROME, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, SEGAWA SYNDROME, RECESSIVE, PAROXYSMAL NONKINESIGENIC DYSKINESIA, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, DIHYDROPYRIMIDINURIA, PERRAULT SYNDROME 1, MENTAL RETARDATION, X-LINKED 30/47, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, QUESTION MARK EARS, ISOLATED, EVEN-PLUS SYNDROME, GALACTOSEMIA, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, PARKINSON DISEASE 20, EARLY-ONSET, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CEREBROTENDINOUS XANTHOMATOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FRUCTOSE INTOLERANCE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, PARAGANGLIOMAS 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, DESBUQUOIS DYSPLASIA 2, MICROPHTHALMIA, ISOLATED 8, EPSTEIN SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, NEU-LAXOVA SYNDROME 1, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, PENDRED'S SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, POLYGLUCOSAN BODY DISEASE, ADULT FORM, INCONTINENTIA PIGMENTI, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, SPINOCEREBELLAR ATAXIA 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, NEU-LAXOVA SYNDROME 2, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 9, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, GAUCHER DISEASE, TYPE III, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CAMURATI-ENGELMANN DISEASE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, LATHOSTEROLOSIS, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, DEJERINE-SOTTAS DISEASE, BETA-UREIDOPROPIONASE DEFICIENCY, LEBER CONGENITAL AMAUROSIS 9, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RETINITIS PIGMENTOSA 73, DEAFNESS, X-LINKED 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, SPINOCEREBELLAR ATAXIA 21, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, CAPOS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, FILS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CATARACT 44, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COLE-CARPENTER SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GRISCELLI SYNDROME, TYPE 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, BURN-MCKEOWN SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, COENZYME Q10 DEFICIENCY, PRIMARY, 5, IMMUNODEFICIENCY 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, JOUBERT SYNDROME 4, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CANAVAN DISEASE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, PHYTANIC ACID STORAGE DISEASE, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 13, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, LADD SYNDROME, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), APERT SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, CHIME SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, JALILI SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, HYPOBETALIPOPROTEINEMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, CATSHL SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, ALKAPTONURIA, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, DYSTONIA-12, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), GLYCOGEN STORAGE DISEASE IA, MUCOPOLYSACCHARIDOSIS IVA, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, WAARDENBURG SYNDROME, TYPE 3, PARIETAL FORAMINA 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, LOWE SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE II, SENIOR-LOKEN SYNDROME-1, LEBER CONGENITAL AMAUROSIS 13, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CATARACT 13 WITH ADULT I PHENOTYPE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, PERRAULT SYNDROME 5, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, EXUDATIVE VITREORETINOPATHY 4, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, FOCAL FACIAL DERMAL DYSPLASIA 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, WAGNER SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CEROID LIPOFUSCINOSIS, NEURONAL, 11, WILSON-TURNER SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, PERIODIC FEVER, FAMILIAL, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, TREACHER COLLINS SYNDROME 3, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ASPARAGINE SYNTHETASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CODAS SYNDROME, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

LSS, TSC2, LRPAP1, FGFR1, MPDZ, GPT2, ACADS, LBR, GNAS, ATP6V1B1, GUSB, ENPP1, B3GAT3, VMA21, PCYT1A, NSDHL, GLYCTK, GALK1, EGR2, PEX13, FH, AGK, G6PC, WNK1, ARSE, POR, SBF1, HPSE2, PIGW, PSPH, HGD, WWOX, UPB1, KL, AR, OCRL, IDS, ABAT, ASAH1, MT-ND6, MGAT2, ALG11, PGM1, PYCR1, MRE11A, AIFM1, STT3A, CCND1, TALDO1, RPL5, SUCLA2, AP1S2, MAT1A, SGSH, GALNT3, HSPD1, NOL3, EZH2, NDUFA1, GAD1, TNNT2, SUCLG1, NAT8L, NDUFA10, ALDH3A2, PMM2, MT-CO1, CAV3, BANF1, ALDOA, AGL, CTNNB1, PRPS1, NDUFS3, SUFU, NDUFA12, SETD2, SMAD4, PIGY, TAF1, ASNS, LEP, CTDP1, CTSD, NARS2, ALG3, NUP62, PPP2R1A, DBH, NDUFA2, SSR4, AKT1, INPPL1, UBA1, GCNT2, TANGO2, COX15, HGF, CNGB1, ERCC8, IL1B, HSPA9, GNE, PEX5, ECHS1, MTM1, ADK, POLA1, EIF2B1, LRP5, SLC9A1, HINT1, HNRNPK, EIF2B5, NPHP1, PIGL, PTPN11, GMPPA, RARS, MT-CO2, HMGB3, ALG1, DPM1, TUBGCP4, PAK3, GATA4, GPX4, B4GALT7, EGFR, DHCR24, POLR3B, RDH11, ALB, SDHB, DMPK, SURF1, PEX14, DNM2, APOB, QARS, TH, NAA10, AGRN, PGK1, MOCS2, ACTN1, DGUOK, GBA2, ALPL, GFAP, COX6A1, PNPO, HARS2, ACY1, GJA1, IDUA, MYH7, NDUFS4, ASPM, SPTAN1, PGAP1, DES, MT-CO3, GALNS, GFI1B, DLD, RRM2B, CAPN3, NR2E3, RPIA, CYB5R3, SOX9, DDC, SCP2, ALDOB, SLC26A4, NME1, NOTCH1, MYCN, GNS, CORO1A, AMACR, CFL2, VCAN, SP110, MSX2, GK, EARS2, ADAMTS10, NRAS, TCIRG1, HARS, TAZ, FANCA, FGF23, STAT3, BRAF, DMD, UCHL1, DPH1, NDUFB3, MT-ATP6, IGF1, KRT5, CBS, CYP27B1, SC5D, GMPPB, EEF2, B4GALNT1, TGDS, SMC1A, GBE1, TXNL4A, VDR, NAGLU, ATXN1, COQ9, COQ6, ITPA, CLIC2, PDSS2, SNCA, QDPR, NME8, DHODH, SCYL1, COX7B, NDUFV1, ISG15, DLG3, PTS, PDHX, PAX3, ACTG1, ATP2A2, JAGN1, PNKD, XYLT1, P4HB, TYMP, CYP1B1, IGF1R, MTR, SPTLC1, HADHA, PLG, TP53, NDUFB9, DNMT1, IL6, PIK3R1, DCN, PCNA, NEFL, POLR1C, DHFR, PMPCA, ASPA, SMAD3, ALDH18A1, HSPG2, EXT2, DDX58, NDUFS2, C10orf2, MTOR, PLCB4, LMNA, F2, TNFRSF1A, PAFAH1B1, ADSL, GAA, CYP27A1, IKBKG, EFTUD2, ATP6V1B2, AGT, VPS53, MOGS, CDK5, TRAPPC2, KDM1A, BTD, CDH1, KMT2A, DPYS, PNPLA2, FANCM, PIK3CA, GALT, ST3GAL5, SIL1, GFPT1, COX8A, CPT2, CYP26C1, PRKAG2, GATA3, RBPJ, NUBPL, SMARCA4, UROC1, NDUFS7, GPC3, IGF2, GRN, NR1I3, MAPT, ALDH6A1, HEXA, MSMO1, ABCA1, HGSNAT, MET, CNNM4, POLR1D, MCPH1, DSE, MT-ND3, DPYD, NDUFA9, ALDH5A1, ALG6, IMPAD1, COX14, RPS6KA3, DKC1, INS, MOCS1, TYRP1, TPO, TECR, TYR, SMPD1, ALOX12B, HSD17B10, PTDSS1, SDHD, G6PC3, PITX3, VHL, BCS1L, RDX, FKBP14, BRCA1, ITGB2, STT3B, POLR3A, SMS, MT-CYB, ATP5A1, ALDH1A3, MT-ND1, DNA2, RPS10, POLD1, EDN1, DPM2, ACADSB, NONO, FGFR3, POLG2, TK2, LIAS, ATXN2, SMARCB1, MTHFR, HDAC8, KARS, MT-ND4, SDHA, SYNJ1, PANK2, TBP, MYH9, TAF6, PDGFRA, TGFB1, POLE, SLC33A1, CLIC5, DNMT3A, PPT1, GBA, ABCA4, DARS, TNNT3, DLAT, MT-ND4L, PAM16, HRAS, POLG, MTAP, NDUFS6, AGPAT2, NDUFB11, PEX7, TINF2, TUFM, ALG13, CASK, NDUFS8, CAV1, PIGV, POLR1A, PRPF8, MAN1B1, COL1A1, ACOX1, NDUFA11, PIGT, ERCC1, COQ7, EBP, ITGB3, MYO5A, PPARG, OAT, OTX2, HIBCH, EIF2B2, SLC35A2, BTK, COX6B1, NCF4, CLASP1, SDHC, SCO2, NEU1, ALG2, NDUFV2, ERCC2, PDGFRB, XYLT2, AUH, ARHGDIA, BLM, MT-ND2, ATP6V0A2, CYP2R1, SMARCA2, APOA2, PIGO, KRAS, PAX6, GLUD2, GLUL, LMNB1, LRP1, RYR1, LHX3, AGXT, ALDH2, HELLS, LONP1, MRPL44, IFNG, HTT, COX4I2, TUBG1, EP300, EPHX2, AP1S1, GCDH, CLPB, PCK1, TUBA8, LARS, DPAGT1, RAB39B, REN, ETFA, INPP5E, SPR, VWF, MECP2, MVK, TGFB2, GCK, PYCR2, UROS, GALE, HADHB, NDUFS1, VCP, LDLR, ACO2, ATP1A3, CHSY1, PSAT1, ARSB, DNMT3B, PIGN, B3GALT6, ADH1C, DDOST, TPI1, ERLIN2, SKIV2L, PAH, NMNAT1, SUMF1, NHP2, FLNA, NGF, COQ2, HCCS, HSD17B4, DHCR7, HPCA, PDHA1, ATM, GLB1, ETFB, CHKB, FXN, INSR, GALC, EIF2B3, FGFR2, PLCG2, RDH12, UBE2A, GNPAT, GCH1, FANCC, MT-ND5, ELOVL5, PLA2G6, PEX19, PNP, TBXAS1, DOLK, AMPD2, ACSL4, PIGA, RUNX2, COL4A3BP, MYH11, PHGDH, ATR, B4GAT1, ATIC, COX10, SHH

ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, REVESZ SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RETINITIS PIGMENTOSA-40, IMMUNODEFICIENCY 38, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, LUJAN-FRYNS SYNDROME, GLUTARICACIDURIA, TYPE I, CEROID LIPOFUSCINOSIS NEURONAL 6, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, MYOPIA 6, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, CATSHL SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?UROCANASE DEFICIENCY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, RENAL TUBULAR DYSGENESIS, ATAXIA-TELANGIECTASIA-LIKE DISORDER, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORNEA PLANA CONGENITA, RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 11, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, MUCOPOLYSACCHARIDOSIS II, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ?OPTIC ATROPHY 9, CK SYNDROME, LOEYS-DIETZ SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, PRADER-WILLI SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, MUCOPOLYSACCHARIDOSIS TYPE IIID, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GLYCEROL KINASE DEFICIENCY, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, GLUTAMINE DEFICIENCY, CONGENITAL, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, NEUROFIBROMATOSIS, TYPE 1, DEAFNESS, X-LINKED 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, PARAGANGLIOMAS 3, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, KAHRIZI SYNDROME, PELGER-HUET ANOMALY, LUSCAN-LUMISH SYNDROME, ?RETINAL DYSTROPHY AND OBESITY, KLEEFSTRA SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CATARACT 38, AUTOSOMAL RECESSIVE, CANAVAN DISEASE, ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, CHERUBISM, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS VII, TRIGONOCEPHALY 1, CILIARY DYSKINESIA, PRIMARY, 6, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUENKE SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, WAARDENBURG SYNDROME, TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, DEAFNESS, AUTOSOMAL DOMINANT 17, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, RETINITIS PIGMENTOSA 45, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, WAARDENBURG SYNDROME, TYPE 3, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, ASPARTYLGLUCOSAMINURIA, RETINITIS PIGMENTOSA 20, GABA-TRANSAMINASE DEFICIENCY, DESBUQUOIS DYSPLASIA 1, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, KANZAKI DISEASE, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, LATERAL MENINGOCELE SYNDROME, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MYOPATHY, DISTAL, TATEYAMA TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 30/47, UROFACIAL SYNDROME 1, ?SECKEL SYNDROME 8, ARTS SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, {OROFACIAL CLEFT 6}, COLE DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, FANCONI ANEMIA, COMPLEMENTATION GROUP C, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, VAN DER WOUDE SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, HYPEROXALURIA, PRIMARY, TYPE 1, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, MYHRE SYNDROME, TREACHER COLLINS SYNDROME 2, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CEREBROOCULOFACIOSKELETAL SYNDROME 4, LISSENCEPHALY 5, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ALBINISM, OCULOCUTANEOUS, TYPE III, CORNEAL DYSTROPHY, CONGENITAL STROMAL, KABUKI SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, ?PERRAULT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, MYOCLONUS, FAMILIAL CORTICAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THYROID DYSHORMONOGENESIS 2A, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SOTOS SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, GALACTOKINASE DEFICIENCY WITH CATARACTS, COFFIN-SIRIS SYNDROME 3, CATEL-MANZKE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MALOUF SYNDROME, HARP SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, SEGAWA SYNDROME, RECESSIVE, PAROXYSMAL NONKINESIGENIC DYSKINESIA, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME 5, DIHYDROPYRIMIDINURIA, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, QUESTION MARK EARS, ISOLATED, EVEN-PLUS SYNDROME, GALACTOSEMIA, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CLEFT PALATE, ISOLATED, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, CEREBROTENDINOUS XANTHOMATOSIS, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, JACKSON-WEISS SYNDROME, FRUCTOSE INTOLERANCE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, PARAGANGLIOMAS 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, NORUM DISEASE, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, IMMUNODEFICIENCY 23, STARGARDT DISEASE 3, DESBUQUOIS DYSPLASIA 2, MICROPHTHALMIA, ISOLATED 8, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, EPSTEIN SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RETINITIS PIGMENTOSA 57, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, NEU-LAXOVA SYNDROME 1, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, PENDRED'S SYNDROME, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ICHTHYOSIS, X-LINKED, CEREBELLOFACIODENTAL SYNDROME, INCONTINENTIA PIGMENTI, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, SPINOCEREBELLAR ATAXIA 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, NEU-LAXOVA SYNDROME 2, SECKEL SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 9, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ADAMS-OLIVER SYNDROME 4, ?SPINOCEREBELLAR ATAXIA 34, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PARIETAL FORAMINA 1, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, MUCOPOLYSACCHARIDOSIS IVA, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, GAUCHER DISEASE, TYPE III, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, XERODERMA PIGMENTOSUM, GROUP D, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, BARDET-BIEDL SYNDROME 10, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CAMURATI-ENGELMANN DISEASE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, MACULAR DYSTROPHY, PATTERNED, 2, LEUKOCYTE ADHESION DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, DEJERINE-SOTTAS DISEASE, METACHROMATIC LEUKODYSTROPHY, BETA-UREIDOPROPIONASE DEFICIENCY, LEBER CONGENITAL AMAUROSIS 9, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RETINITIS PIGMENTOSA 73, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, SPINOCEREBELLAR ATAXIA 21, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, USHER SYNDROME, TYPE 1G, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, CAPOS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ?SECKEL SYNDROME 6, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, FILS SYNDROME, FLOATING-HARBOR SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OHDO SYNDROME, X-LINKED, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, DEAFNESS, AUTOSOMAL RECESSIVE 89, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CATARACT 44, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, BURN-MCKEOWN SYNDROME, PARKINSON DISEASE 20, EARLY-ONSET, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, DEAFNESS, AUTOSOMAL DOMINANT 20/26, COENZYME Q10 DEFICIENCY, PRIMARY, 5, D-GLYCERIC ACIDURIA, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, JOUBERT SYNDROME 4, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, FISH-EYE DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, PHYTANIC ACID STORAGE DISEASE, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIAMOND-BLACKFAN ANEMIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ?MICROPHTHALMIA, SYNDROMIC 13, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 12, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, LADD SYNDROME, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), APERT SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, LEUKODYSTROPHY, HYPOMYELINATING, 3, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, MANNOSIDOSIS, BETA, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, RETINITIS PIGMENTOSA 59, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, FARBER LIPOGRANULOMATOSIS, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, CHIME SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, DEAFNESS, AUTOSOMAL RECESSIVE 23, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, JALILI SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, HYPOBETALIPOPROTEINEMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, SULFITE OXIDASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, ALKAPTONURIA, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, DEAFNESS, AUTOSOMAL RECESSIVE 70, DYSTONIA-12, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), HYPER-IGD SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, USHER SYNDROME, TYPE 1F, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ACHROMATOPSIA 6, RETINAL CONE DYSTROPHY 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ETHYLMALONIC ENCEPHALOPATHY, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, GM1-GANGLIOSIDOSIS, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ?LAURENCE-MOON SYNDROME, GLYCOGEN STORAGE DISEASE II, SENIOR-LOKEN SYNDROME-1, LEBER CONGENITAL AMAUROSIS 13, IMMUNODEFICIENCY 33, CONE DYSTROPHY 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, CORNELIA DE LANGE SYNDROME 3, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, L-2-HYDROXYGLUTARIC ACIDURIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MACROCEPHALY/AUTISM SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CATARACT 13 WITH ADULT I PHENOTYPE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LATHOSTEROLOSIS, PERRAULT SYNDROME 5, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, EXUDATIVE VITREORETINOPATHY 4, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, FOCAL FACIAL DERMAL DYSPLASIA 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, WAGNER SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CEROID LIPOFUSCINOSIS, NEURONAL, 11, WILSON-TURNER SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HEMOCHROMATOSIS, TYPE 4, TREACHER COLLINS SYNDROME 3, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COENZYME Q10 DEFICIENCY, PRIMARY, 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 3, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DYSKERATOSIS CONGENITA, X-LINKED, HAMAMY SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ASPARAGINE SYNTHETASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CODAS SYNDROME, KABUKI SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, LSS, TSC2, LRPAP1, LAMB1, FGFR1, VARS2, LMNA, PSPH, GPT2, ACADS, DNM2, LBR, GNAS, ATP6V1B1, SUOX, GUSB, ENPP1, EOGT, ETHE1, VMA21, PCYT1A, NSDHL, GLYCTK, GALK1, AKT2, NRAS, EGR2, IL1B, FH, PNPT1, AGK, G6PC, POMGNT1, ARFGEF2, WNK1, ARSE, POR, SBF1, HPSE2, PIGW, CREBBP, HGD, RPS24, NONO, VLDLR, XRCC4, KL, APOA1, ISG15, OCRL, NDUFA1, CD79A, CDK6, DNMT3A, THRA, HS6ST1, ABAT, ASAH1, MT-ND6, CASK, MGAT2, BTD, PIK3CD, PTDSS1, IFNG, MRE11A, AIFM1, CBL, CCND1, TALDO1, RPL5, SUCLA2, AP1S2, MAT1A, TECR, ITPR1, GALNT3, HSPD1, WWOX, SP110, MT-CYB, RPS10, PRKACG, GAD1, TNNT2, NAT8L, KMT2A, NDUFA10, SMC3, ALDH3A2, PDE6C, PMM2, MT-CO1, CP, BANF1, ALDOA, AGL, CTNNB1, PRPS1, NDUFS3, SUFU, NDUFA12, SETD2, SMAD4, PIGY, CHST14, TAF1, CEP63, ASNS, LEP, CTDP1, ALDH2, NARS2, ALG3, NUP62, PPP2R1A, DBH, NDUFA2, SSR4, AKT1, INPPL1, PPIB, UBA1, GCNT2, TANGO2, UBE3A, LIPE, HGF, CNGB1, ERCC8, LRAT, PDE6G, HSPA9, GNE, PEX5, ECHS1, NPR2, KDM6A, MTM1, ADK, POLA1, CHST3, CUL4B, EIF2B1, LRP5, MOGS, SLC9A1, HINT1, HNRNPK, EIF2B5, NPHP1, PIGL, PTPN11, GMPPA, RARS, MT-CO2, PDSS1, PCDH15, HMGB3, LCAT, DPM1, TUBGCP4, PAK3, GATA4, ZMPSTE24, KERA, B4GALT7, CHAT, EGFR, DHCR24, POLR3B, RDH11, DPM2, ALB, SDHB, DMPK, SURF1, CTNNA1, PEX14, TRIM32, APOB, COQ9, QARS, TH, NAA10, ACTB, AGRN, GRN, MOCS2, ACTN1, DGUOK, GBA2, ALPL, B3GLCT, GFAP, COX6A1, PNPO, HARS2, ACY1, REN, IDUA, MYH7, NDUFS4, ASPM, SPTAN1, PGAP1, DES, MT-CO3, GALNS, GFI1B, DLD, RRM2B, COQ2, CAPN3, NR2E3, RPIA, CYB5R3, TUB, SLC33A1, SOX9, TGFB2, SCP2, ALDOB, SLC26A4, CYP7B1, GUCY2D, NOTCH1, MYCN, NAGA, GNS, CORO1A, AMACR, UPB1, CFL2, VCAN, SUCLG1, MSX2, GK, KMT2C, EARS2, ADAMTS10, PIKFYVE, ERLIN2, TCIRG1, HARS, L2HGDH, TAZ, FANCA, STS, RB1, FGF23, STAT3, BRAF, ADCY6, DMD, B3GAT3, PIGA, UCHL1, DPH1, MYOC, NDUFB3, MT-ATP6, IGF1, ALG1, KRT5, CBS, GUCA1A, CYP27B1, SC5D, GMPPB, EEF2, B4GALNT1, TGDS, HRAS, NDN, BBS10, SMC1A, GBE1, TXNL4A, VDR, NAGLU, ATXN1, ETFA, POLG, ITPA, LRP2, CLIC2, PDSS2, SNCA, PRKCG, PGM3, NF1, QDPR, NME8, MT-ND3, SCYL1, COX7B, NDUFV1, AR, DLG3, MTFMT, PTS, PDHX, PAX3, ACTG1, ATP2A2, JAGN1, PNKD, XYLT1, P4HB, TYMP, CYP1B1, KMT2D, IGF1R, MTR, IDS, SPTLC1, HADHA, PLG, MED12, BLM, DNMT1, IL6, PIK3R1, DCN, PCNA, NEFL, POLR1C, AGA, TUFM, PMPCA, ASPA, SMAD3, ALDH18A1, HSPG2, EXT2, DDX58, NDUFS2, C10orf2, MTOR, ATIC, PDE4D, CAV3, F2, TNFRSF1A, ADCY1, PAFAH1B1, STT3B, ADSL, ALDH6A1, CYP27A1, IKBKG, EFTUD2, ATP6V1B2, AGT, VPS53, ATP1A2, CDK5, TRAPPC2, KDM1A, ALG11, CDH1, IRX5, MANBA, DPYS, PDE6D, SEPSECS, PNPLA2, COL1A1, FANCM, PIK3CA, GALT, ST3GAL5, SIL1, GFPT1, COX8A, CPT2, CYP26C1, PRKAG2, GATA3, PEX13, RBPJ, CTSD, NUBPL, ACTA1, SMARCA4, UROC1, STT3A, NDUFS7, GPC3, IGF2, PGK1, NOTCH2, NR1I3, MAPT, ADH1C, SH3BP2, HEXA, MSMO1, TK2, ABCA1, PLOD1, PLOD3, HGSNAT, MET, CNNM4, EBP, POLR1D, MCPH1, EEF1A2, DSE, ERCC5, DHODH, DPYD, TSHR, ALDH5A1, ALG6, IMPAD1, COX14, RPS6KA3, DKC1, INS, PAM16, EZH2, TYRP1, TPO, SGSH, TYR, EMD, SMPD1, ALOX12B, HSD17B10, PDE11A, SDHD, G6PC3, PITX3, SYN1, TXN2, VHL, BCS1L, GRIN2B, RDX, FKBP14, BRCA1, ITGB2, HIBCH, RPE65, POLR3A, SMS, AIMP1, NOL3, ATP5A1, ALDH1A3, MT-ND1, DNA2, POLD1, EDN1, TERT, NDUFA9, ACADSB, CA8, PTEN, FGFR3, POLG2, PPP2R2B, SOX10, EHMT1, RBP4, LIAS, PGM1, ATXN2, SLC40A1, SMARCB1, MTHFR, HDAC8, KARS, PDE6H, MT-ND4, SDHA, SYNJ1, PANK2, TBP, MYH9, TAF6, PDGFRA, TGFB1, PNPLA6, POMT1, POLE, HERC2, PDE10A, CLIC5, PDE6B, PPT1, GBA, ABCA4, MARS2, GATA6, RDH5, DLAT, HNMT, MT-ND4L, MOCS1, F10, COQ6, MTAP, NDUFS6, AGPAT2, NDUFB11, IRF6, PEX7, TINF2, DHFR, ALG13, ETFB, SRCAP, FUCA1, NDUFS8, CAV1, PIGV, POLR1A, PRPF8, MAN1B1, DDC, ACOX1, SRD5A3, NDUFA11, PIGT, ERCC1, COQ7, BCAP31, ACP5, SEMA3A, ITGB3, MYO5A, PPARG, CD19, OAT, OTX2, PRKAR1A, EIF2B2, SLC35A2, BTK, MAN2B1, COX6B1, NCF4, CLASP1, SDHC, SCO2, NEU1, ALG2, NDUFV2, DARS, BMP4, ERCC2, PDGFRB, XYLT2, AUH, ARHGDIA, NDUFB9, MT-ND2, ATP6V0A2, CYP2R1, SMARCA2, APOA2, PIGO, KRAS, TP53, PAX6, GLUD2, GLUL, LMNB1, LRP1, ARSA, LHX3, AGXT, HELLS, CANT1, DHDDS, LONP1, MRPL44, GNPAT, PYCR1, ELOVL4, HTT, COX4I2, TUBG1, EP300, EPHX2, AP1S1, GCDH, CLPB, POMT2, NOTCH3, HCFC1, ADCY5, PCK1, TUBA8, LARS, TTR, PLA2G6, RAB39B, GJA1, INPP5E, SPR, VWF, MECP2, MVK, TNNT3, GCK, PYCR2, UROS, GALE, HADHB, NDUFS1, VCP, LDLR, ACO2, ATP1A3, MPDZ, CHSY1, PSAT1, ARSB, DNMT3B, PIGN, B3GALT6, CHRM3, DDOST, TPI1, GAA, SKIV2L, GPX4, PAH, NMNAT1, SUMF1, NHP2, NME1, FLNA, NGF, TUBGCP6, HCCS, HSD17B4, DHCR7, HPCA, PDHA1, ENTPD1, ATM, GLB1, BRF1, NSD1, B4GAT1, FXN, INSR, GALC, AKT3, EIF2B3, FGFR2, PLCG2, RDH12, GLA, GCH1, FANCC, MT-ND5, ELOVL5, DPAGT1, PEX19, PNP, TBXAS1, DOLK, AMPD2, ACSL4, DNAJC3, RUNX2, COL4A3BP, MYH11, PHGDH, ATR, CHKB, PLCB4, COX15, COX10, RYR1, SHH

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, PEROXISOME BIOGENESIS DISORDER 5B, DIAMOND-BLACKFAN ANEMIA 9, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, MANNOSIDOSIS, ALPHA-, TYPES I AND II, PAPILLON-LEFEVRE SYNDROME, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), OTOPALATODIGITAL SYNDROME, TYPE II, MENTAL RETARDATION, X-LINKED 63, ACHONDROPLASIA, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, {PARKINSON DISEASE 8}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, WAARDENBURG SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DEAFNESS, AUTOSOMAL DOMINANT 11, CLEFT PALATE, ISOLATED, CEROID LIPOFUSCINOSIS NEURONAL 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, DYSTONIA-11, MYOCLONIC, CARASIL SYNDROME, CANDIDIASIS, FAMILIAL, 9, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, DANON DISEASE, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, HOLOPROSENCEPHALY-9, BRACHIOOTIC SYNDROME 3, PERIODONTITIS 1, JUVENILE, PORENCEPHALY 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, SALLA DISEASE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), ?STEEL SYNDROME, MANDIBULOACRAL DYSPLASIA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, TRICHOMEGALY, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, GAUCHER DISEASE, TYPE IIIC, HAIM-MUNK SYNDROME, MACULAR DYSTROPHY, RETINAL, 2, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, FRONTONASAL DYSPLASIA 2, BOHRING-OPITZ SYNDROME, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, MUCOPOLYSACCHARIDOSIS II, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, ?OPTIC ATROPHY 9, CK SYNDROME, CATARACT 16, MULTIPLE TYPES, LOEYS-DIETZ SYNDROME 3, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, PEROXISOME BIOGENESIS DISORDER 14B, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EXUDATIVE VITREORETINOPATHY 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HAY-WELLS SYNDROME, HEIMLER SYNDROME 2, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SEBASTIAN SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, CULLER-JONES SYNDROME, PELGER-HUET ANOMALY, RETINITIS PIGMENTOSA 59, TIMOTHY SYNDROME, NOONAN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), RETINITIS PIGMENTOSA 60, ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, GM2-GANGLIOSIDOSIS, AB VARIANT, BRACHYDACTYLY, TYPE E2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, IMAGE SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, ASPARTYLGLUCOSAMINURIA, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, DEAFNESS, AUTOSOMAL DOMINANT 17, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, GLAUCOMA 1A, PRIMARY OPEN ANGLE, WAARDENBURG SYNDROME, TYPE 3, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, PARKINSON DISEASE 19, JUVENILE-ONSET, VAN DEN ENDE-GUPTA SYNDROME, NAIL-PATELLA SYNDROME, VAN MALDERGEM SYNDROME 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 72, CORTICAL MALFORMATIONS, OCCIPITAL, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, KANZAKI DISEASE, DUANE-RADIAL RAY SYNDROME, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, CROUZON SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 29, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, DEAFNESS, AUTOSOMAL DOMINANT 13, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, GAUCHER DISEASE, TYPE I, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, MENTAL RETARDATION, X-LINKED 30/47, AMELOGENESIS IMPERFECTA, TYPE IH, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, SCHOPF-SCHULZ-PASSARGE SYNDROME, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, BRACHYOLMIA TYPE 3, IMMUNODEFICIENCY 20, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, DEAFNESS, AUTOSOMAL DOMINANT 3B, ?RETINITIS PIGMENTOSA 67, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ADULT SYNDROME, BONE MARROW FAILURE SYNDROME 1, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, RETINITIS PIGMENTOSA 27, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, COLE-CARPENTER SYNDROME 1, HOLOPROSENCEPHALY-7, BLAU SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, DEAFNESS, AUTOSOMAL DOMINANT 23, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, WAARDENBURG SYNDROME, TYPE 2D, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, DEAFNESS, AUTOSOMAL DOMINANT 56, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, DENTIN DYSPLASIA, TYPE II, ALBINISM, OCULOCUTANEOUS, TYPE III, CORNEAL DYSTROPHY, CONGENITAL STROMAL, MENTAL RETARDATION, X-LINKED 1, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, KNOBLOCH SYNDROME 1, ACROMICRIC DYSPLASIA, OGDEN SYNDROME, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LISSENCEPHALY 3, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, HYPERFERRITINEMIA-CATARACT SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PEROXISOME BIOGENESIS DISORDER 3B, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, DYSTONIA 27, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, WRINKLY SKIN SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, COFFIN-SIRIS SYNDROME 3, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTHROGRYPOSIS, DISTAL, TYPE 8, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, TARSAL-CARPAL COALITION SYNDROME, FRAXE, AMELOGENESIS IMPERFECTA, TYPE IA, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, SEGAWA SYNDROME, RECESSIVE, SADDAN, SYMPHALANGISM, PROXIMAL, 1A, HEIMLER SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME 5, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MEDNIK SYNDROME, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, RETINITIS PIGMENTOSA 37, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, PARKINSON DISEASE 20, EARLY-ONSET, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, NOONAN SYNDROME 10, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPINOCEREBELLAR ATAXIA 27, SPONDYLOPERIPHERAL DYSPLASIA, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, FRAGILE X TREMOR/ATAXIA SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, MUSCULAR DYSTROPHY, CONGENITAL, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, DEAFNESS, AUTOSOMAL DOMINANT 64, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, AURICULOCONDYLAR SYNDROME 1, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 41, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, BRANCHIOOTIC SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, X-LINKED, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 1B, PEROXISOME BIOGENESIS DISORDER 8B, CEROID LIPOFUSCINOSIS, NEURONAL, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, MENTAL RETARDATION, X-LINKED 46, TUMOR PREDISPOSITION SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, FACTOR XIIIA DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, PARIETAL FORAMINA 1, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, FAILURE OF TOOTH ERUPTION, PRIMARY, LEOPARD SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 15, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SENIOR-LOKEN SYNDROME 4, ECTOPIA LENTIS, FAMILIAL, MUCOLIPIDOSIS III ALPHA/BETA, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, SC PHOCOMELIA SYNDROME, PARIETAL FORAMINA 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DEJERINE-SOTTAS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SENIOR-LOKEN SYNDROME 5, 3MC SYNDROME 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RETINITIS PIGMENTOSA 73, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GAUCHER DISEASE, PERINATAL LETHAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, SPINOCEREBELLAR ATAXIA 21, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, USHER SYNDROME, TYPE 1G, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, ?CATARACT 43, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CEROID LIPOFUSCINOSIS, NEURONAL, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOPHOSPHATEMIC RICKETS, AR, CORNELIA DE LANGE SYNDROME 2, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ATELOSTEOGENESIS, TYPE I, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CEROID LIPOFUSCINOSIS, NEURONAL, 7, COMBINED SAP DEFICIENCY, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 4B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {BLEPHAROSPASM, PRIMARY BENIGN}, SERKAL SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, ?IMMUNODEFICIENCY 37, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, ECTOPIA LENTIS ET PUPILLAE, USHER SYNDROME, TYPE 1F, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ENDOCRINE-CEREBROOSTEODYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 35, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, BETHLEM MYOPATHY 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, ODONTOONYCHODERMAL DYSPLASIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MEIER-GORLIN SYNDROME 4, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPINOCEREBELLAR ATAXIA 14, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEPHRONOPHTHISIS 15, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BLOOM SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, AGAMMAGLOBULINEMIA 4, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, PHYTANIC ACID STORAGE DISEASE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PEROXISOME BIOGENESIS DISORDER 6B, SMED STRUDWICK TYPE, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, RENAL ADYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, DEAFNESS, AUTOSOMAL RECESSIVE 37, CUTIS LAXA, AD, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 12, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, MUCOLIPIDOSIS IV, LADD SYNDROME, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MOHR-TRANEBJAERG SYNDROME, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 3, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, THROMBOCYTOPENIA 5, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MARSHALL SYNDROME, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, THANATOPHORIC DYSPLASIA, TYPE II, SPINOCEREBELLAR ATAXIA 5, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MANNOSIDOSIS, BETA, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ADENYLOSUCCINASE DEFICIENCY, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MUCOLIPIDOSIS III GAMMA, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, TREACHER COLLINS SYNDROME 3, MYOPATHY, MYOFIBRILLAR, 2, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HERMANSKY-PUDLAK SYNDROME 1, USHER SYNDROME, TYPE IJ, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, FARBER LIPOGRANULOMATOSIS, GM1-GANGLIOSIDOSIS, TYPE II, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, DEAFNESS, AUTOSOMAL RECESSIVE 23, USHER SYNDROME, TYPE 1B, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MEIER-GORLIN SYNDROME 2, OCULODENTODIGITAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MEIER-GORLIN SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, SPINOCEREBELLAR ATAXIA 36, CATSHL SYNDROME, URBACH-WIETHE DISEASE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, TRIFUNCTIONAL PROTEIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, HOLOPROSENCEPHALY-2, ARTHROGRYPOSIS, DISTAL, TYPE 2A, HYPER-IGD SYNDROME, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, TRIGONOCEPHALY 1, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MUCOPOLYSACCHARIDOSIS IS, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?DEAFNESS, X-LINKED 6, STICKLER SYNDROME, TYPE II, ?BARDET-BIEDL SYNDROME 11, GM1-GANGLIOSIDOSIS, TYPE I, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NIEMANN-PICK DISEASE, TYPE C2, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?MYOSCLEROSIS, CONGENITAL, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 53, NEUROFIBROMATOSIS, TYPE 2, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PERRAULT SYNDROME 5, CHILD SYNDROME, EXUDATIVE VITREORETINOPATHY 4, METACHROMATIC LEUKODYSTROPHY, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, VOHWINKEL SYNDROME, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 48, HERMANSKY-PUDLAK SYNDROME 2, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, VON WILLIBRAND DISEASE, TYPE 3, LEUKODYSTROPHY, HYPOMYELINATING, 6, LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CEROID LIPOFUSCINOSIS, NEURONAL, 10, DEAFNESS, AUTOSOMAL RECESSIVE 68, TIETZ ALBINISM-DEAFNESS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 30, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N