HEAD AND NECK

BARAITSER-WINTER SYNDROME 1, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA WITH COLOBOMA 5, ?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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ANGIOEDEMA, HEREDITARY, TYPE III, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, CARASIL SYNDROME, {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}, PERIODONTITIS 1, JUVENILE, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {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, DEAFNESS, AUTOSOMAL RECESSIVE 68, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, HAIM-MUNK SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VON WILLEBRAND DISEASE, TYPE 1, PERRAULT SYNDROME 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, AMELOGENESIS IMPERFECTA, TYPE IIA1, FRAXE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, CYSTINOSIS, OCULAR NONNEPHROPATHIC, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LOEYS-DIETZ SYNDROME 5, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CORNELIA DE LANGE SYNDROME 4, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, DEAFNESS, AUTOSOMAL RECESSIVE 35, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, PAPILLON-LEFEVRE SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, EXUDATIVE VITREORETINOPATHY 1, TYLOSIS WITH ESOPHAGEAL CANCER, CHOROID PLEXUS PAPILLOMA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, COMPLEMENT FACTOR I DEFICIENCY, MICROPHTHALMIA, ISOLATED 6, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, FACTOR XIIIA DEFICIENCY, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CODAS SYNDROME, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, PROTEUS SYNDROME, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOB, VLDLR, ACTB, CAV1, PROC, MYH11, CTNNB1, CDK5, TP53, CBL, COL1A1, VWF, ST14, RAD21, GP9, AR, IGF2, TGFB1, CTNS, COL1A2, CD40LG, TGFB3, CTSC, AGT, MTOR, LEP, KITLG, CREBBP, TPP1, FKBP14, SERPINA1, ITGB2, ALB, AKT1, SERPINI1, MMP1, NGF, PRSS12, RUNX1, PRSS23, PPIB, PAFAH1B1, LONP1, PLG, IL6, CFI, MASP1, IFNG, SERPINB6, EGFR, GPX4, PCSK9, INS, IGF1, F2, NEU1, HLA-DQA1, DES, F12, APC, HTRA1, CLPP, BMP4, IL1B, S1PR2, DNAJC3, ACTA2, RUNX2, RB1, F13A1, HSD17B10, NME1, F7, HSPG2, STAT3, CDH1, ESRRB, RHBDF2, F10, KLK4, PRSS56, GDF2, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, HOLOPROSENCEPHALY 11, ARTHROGRYPOSIS, DISTAL, TYPE 5, EPISODIC ATAXIA, TYPE 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, CONE-ROD DYSTROPHY, X-LINKED, 3, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, JERVELL AND LANGE-NIELSEN SYNDROME 1, OTOPALATODIGITAL SYNDROME, TYPE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, BARTTER SYNDROME, TYPE 2, TREACHER COLLINS SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MELNICK-NEEDLES SYNDROME, LEBER CONGENITAL AMAUROSIS 16, JOUBERT SYNDROME 4, BARAITSER-WINTER SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, FECHTNER SYNDROME, EPISODIC ATAXIA, TYPE 2, {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}, MYOPATHY, TUBULAR AGGREGATE, 1, LEOPARD SYNDROME 3, ?DYSTONIA 23, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, EPISODIC ATAXIA/MYOKYMIA SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, STORMORKEN SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, ARTHROGRYPOSIS, DISTAL, TYPE 3, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 11, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PAROXYSMAL EXTREME PAIN DISORDER, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RETINAL CONE DYSTROPHY 3B, ?MARDEN-WALKER SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, ACHROMATOPSIA-2, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, DEAFNESS, AUTOSOMAL DOMINANT 41, TEMPLE-BARAITSER SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, FRAXE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MYOPATHY, TUBULAR AGGREGATE, 2, SPINOCEREBELLAR ATAXIA 6, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MUCOLIPIDOSIS IV, SPINOCEREBELLAR ATAXIA 13, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LONG QT SYNDROME 1, KEPPEN-LUBINSKY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, EMBERGER SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 2A, CORNELIA DE LANGE SYNDROME 3, TIMOTHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, DEAFNESS, AUTOSOMAL RECESSIVE 77, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, OTOPALATODIGITAL SYNDROME, TYPE I, DEAFNESS, AUTOSOMAL RECESSIVE 30, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SPINOCEREBELLAR ATAXIA 19, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED 21/34, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MACROCEPHALY/AUTISM SYNDROME, OLMSTED SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, IMMUNODEFICIENCY 10, ANDERSEN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 17, TUBEROUS SCLEROSIS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RETINITIS PIGMENTOSA 45, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MYASTHENIC SYNDROME, CONGENITAL, 16, LEBER CONGENITAL AMAUROSIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CHERUBISM, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 36, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, DYSTONIA-11, MYOCLONIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, ESCOBAR SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, DEAFNESS, AUTOSOMAL RECESSIVE 37, 3MC SYNDROME 1, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, RETINAL CONE DYSTROPHY 4, ACHROMATOPSIA-3, SPINOCEREBELLAR ATAXIA 42, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, MASA SYNDROME, CRASH SYNDROME, BRACHYOLMIA TYPE 3, CEROID LIPOFUSCINOSIS, NEURONAL, 10, IMMUNODEFICIENCY 9, LEOPARD SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, APOB, KCNJ10, PDE4D, CACNA1S, ACTB, NALCN, SQSTM1, CACNA2D4, AGT, KCNJ6, CDK5, CDH1, CTNNB1, MYO3A, KCNA1, CACNA1B, SCN8A, EFEMP2, KCNT1, CACNB4, DRD2, CREBBP, PRKACG, CHRNG, ANO10, TRPV3, IL1RAPL1, VLDLR, SCN4A, KRAS, CNGB3, ADCY6, GUCY2D, CABP4, KCNJ1, DAG1, CACNA1D, SH3BP2, CASK, KCND3, CACNA1F, ORAI1, CHRND, CCND1, KCNV2, IFNG, ITPR1, CACNA1A, L1CAM, MYO6, ALPL, RYR1, SNAP25, TNFRSF11A, PCNA, P2RX2, STAT3, BRAF, ACD, ABCC8, SMC3, CTSD, TMC1, CAV3, STIM1, GRIN2B, KCNJ11, CACNA1G, GJA1, IGF1, MCOLN1, GRM1, CNTN1, HSPD1, DMD, KCNJ5, CHRNE, CHRNA1, HRAS, AKT1, GNAQ, ITPR2, VCP, LDLR, CNGA3, EGFR, PIEZO1, HGF, SCN1A, CNGB1, EDN1, PTEN, TRPV4, MUSK, KCNH1, CHRM3, KCNJ13, CDON, FLNA, KCNQ1, NGF, MASP1, ACTG1, P2RX1, EIF2B1, NPHP1, TGFB1, STXBP1, PTPN11, PIEZO2, MYH9, SPTLC1, PRKACA, CACNA1C, SERPINA1, SCN9A, HERC2, LOXHD1, ABCA4, ABCC9, PCSK9, INS, BDNF, POLR1C, CHRNB1, KCNJ2, PAM16, KCNQ4, LRP2, LRP1, KCNC3, SMAD3, ALB, GATA2, PIK3R1

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPER-IGE RECURRENT INFECTION SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CATARACT 5, MULTIPLE TYPES, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ADAMS-OLIVER SYNDROME 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, DEJERINE-SOTTAS DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, AXENFELD-RIEGER SYNDROME, TYPE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 17, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

GATA1, CTNNB1, TP53, HSF4, STAT1, TBP, CCND1, TBX3, PITX2, STAT3, LHX3, CDH1, SMARCA4, CDKN2A, EGR2, EP300, TBX6, BMP4, RB1, SMAD3, CREBBP, POU1F1, INS, RBPJ, GATA2

?DYSTONIA 23, BARAITSER-WINTER SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, DEAFNESS, AUTOSOMAL DOMINANT 36, TIMOTHY SYNDROME, JOUBERT SYNDROME 4, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, DEAFNESS, AUTOSOMAL RECESSIVE 77, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SPINOCEREBELLAR ATAXIA 15, SENIOR-LOKEN SYNDROME-1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FECHTNER SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CONE-ROD DYSTROPHY, X-LINKED, 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MUCOLIPIDOSIS IV, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, MENTAL RETARDATION, X-LINKED 21/34, EPISODIC ATAXIA, TYPE 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OSTEOLYSIS, FAMILIAL EXPANSILE, MACROCEPHALY/AUTISM SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 1, OLMSTED SYNDROME, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, SEBASTIAN SYNDROME, EPISODIC ATAXIA, TYPE 5, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, DEAFNESS, AUTOSOMAL DOMINANT 17, TUBEROUS SCLEROSIS 2, FRAXE, STORMORKEN SYNDROME, RETINAL CONE DYSTROPHY 4, EPSTEIN SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SPINOCEREBELLAR ATAXIA 42, MYOPATHY, TUBULAR AGGREGATE, 2, SPINOCEREBELLAR ATAXIA 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BRACHYOLMIA TYPE 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 9, LEOPARD SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

CAV3, STIM1, TUBG1, CACNA2D4, CACNA1G, TRPV4, NGF, IL1RAPL1, SERPINA1, PTEN, MCOLN1, NALCN, NPHP1, GRM1, PTPN11, CCND1, MYH9, RYR1, CACNA1C, CHRNE, AKT1, CTNNB1, ITPR2, TSC2, ORAI1, TNFRSF11A, VCP, CACNA1F, CACNA1S, GRIN2B, ITPR1, CACNA1B, CACNA1A, TRPV3, EGFR, CACNB4, ACTB, STXBP1, SMAD3, P2RX1, LOXHD1, PAM16, CACNA1D, TMC1

DENTIN DYSPLASIA, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORNEAL DYSTROPHY, LATTICE TYPE I, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, PSEUDOACHONDROPLASIA, KNOBLOCH SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, VON WILLEBRAND DISEASE, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, EPITHELIAL RECURRENT EROSION DYSTROPHY, VON WILLIBRAND DISEASE, TYPE 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, LEUKOCYTE ADHESION DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, AVELLINO TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, OSTEOGENESIS IMPERFECTA, TYPE XVII, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, CUTIS LAXA, AD, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, STICKLER SYNDROME, TYPE I, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATEMIC RICKETS, AR, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, BLEEDING DISORDER, PLATELET-TYPE, 11, LISSENCEPHALY 5, PYCNODYSOSTOSIS, BETHLEM MYOPATHY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORNEAL DYSTROPHY, CONGENITAL STROMAL, TUBEROUS SCLEROSIS 2, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, LOEYS-DIETZ SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, RENAL TUBULAR DYSGENESIS, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

CCBE1, COL18A1, LAMB1, MYH11, BMP1, TP53, ELN, TUBG1, SMAD4, CTSK, LAMA2, TGFB1, VWF, COL1A2, COL17A1, FLNA, ADGRG1, AGT, STAT3, COL1A1, COL7A1, COL6A1, ITGB2, PDGFB, CDH1, COMP, IL6, IFNG, ITGA3, BMP4, DCN, SPARC, GP6, F2, TGFBI, SERPINH1, HRAS, IL1B, DSPP, PDGFRB, SMAD3, HSPG2, ANTXR1, DDR2, USH2A, COL2A1, INS, MMP1, DMP1, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, 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, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, DEAFNESS, AUTOSOMAL DOMINANT 23, GILLESPIE SYNDROME, PARIETAL FORAMINA 2, BRACHIOOTIC SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, PITT-HOPKINS SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, RUBINSTEIN-TAYBI SYNDROME, PCWH SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {AUTISM, SUSCEPTIBILITY TO, 18}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HAJDU-CHENEY SYNDROME, MOWAT-WILSON SYNDROME, FOVEAL HYPOPLASIA 1, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 15, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MELNICK-FRASER SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, HOLOPROSENCEPHALY-2, CRANIOSYNOSTOSIS 3, AXENFELD-RIEGER SYNDROME, TYPE 1, COUSIN SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, WAARDENBURG SYNDROME, TYPE 4C, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, CHAR SYNDROME, WEAVER SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, COFFIN-SIRIS SYNDROME 4, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, WIEDEMANN-STEINER SYNDROME, JAWAD SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NICOLAIDES-BARAITSER SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, BRANCHIOOCULOFACIAL SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, MYHRE SYNDROME, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, MICROPHTHALMIA, SYNDROMIC 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, RUBINSTEIN-TAYBI SYNDROME 2, DEJERINE-SOTTAS DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PARIETAL FORAMINA 1, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

TCF12, GATA1, HESX1, AR, YAP1, SHH, TBX15, SMARCA4, TP53, SMARCA2, MED13L, SMAD4, OTX2, DLX5, DVL3, FOXG1, NOTCH1, MSX1, STAT1, TBP, CHD8, RBBP8, PITX2, PPARG, STAT3, MEF2C, SOX2, TCF4, EGR2, BMP4, LHX3, AKT1, CCND2, CTNNB1, SOX10, KMT2A, GFAP, SALL1, SIX1, IL6, MED12, HOXA2, SIX3, GATA4, MED17, POU1F1, EZH2, GATA2, EP300, TBX6, CREBBP, SOX11, RUNX2, PAX6, TFAP2B, ITCH, TGFBR2, ZEB2, SMAD3, TFAP2A, NOTCH2, POU4F3, ACVR1, MSX2, ALX4, PQBP1, INS, RBPJ, GDF2, RB1, PIK3R1

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BASAL CELL NEVUS SYNDROME, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), MICROPHTHALMIA WITH COLOBOMA 5, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, RETINITIS PIGMENTOSA 27, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PARIETAL FORAMINA 2, BRACHIOOTIC SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PITT-HOPKINS SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BECKWITH-WIEDEMANN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, FOVEAL HYPOPLASIA 1, DEAFNESS, AUTOSOMAL DOMINANT 15, SOTOS SYNDROME 1, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, MELNICK-FRASER SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, MICROPHTHALMIA, SYNDROMIC 6, LIMB-MAMMARY SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HAY-WELLS SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, CHAR SYNDROME, WEAVER SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, RETINITIS PIGMENTOSA 37, CLEFT PALATE, ISOLATED, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, LAMB-SHAFFER SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, ?OSTEOGENESIS IMPERFECTA, TYPE XII, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, NOONAN SYNDROME 10, DEAFNESS, AUTOSOMAL RECESSIVE 35, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?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, MYOTONIC DYSTROPHY 2, MICROPHTHALMIA, ISOLATED 3, WAARDENBURG SYNDROME, TYPE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PCWH SYNDROME, FRONTONASAL DYSPLASIA 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, AYME-GRIPP SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {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, BRANCHIOOCULOFACIAL SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, GILLESPIE SYNDROME, ECTOPIA LENTIS ET PUPILLAE, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, DEAFNESS, AUTOSOMAL RECESSIVE 39, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ADULT SYNDROME, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, TIETZ ALBINISM-DEAFNESS SYNDROME, KLIPPEL-FEIL SYNDROME 2, LADD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, DEJERINE-SOTTAS DISEASE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, THROMBOCYTOPENIA 5, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

IHH, WNT5A, SALL1, ATRX, SOX5, TBX3, AGT, PPARG, OTX2, SOX10, UBB, CDKN2A, EGR2, NDRG1, BMP4, MITF, MEOX1, CNBP, CREBBP, NRL, POU1F1, NR2E3, RBPJ, TGFBR2, SOX9, SMARCA4, RUNX1, PAX6, TFAP2A, AR, SP7, IGF2, NOTCH1, PTF1A, GATA2, MEF2C, LHX3, GATA3, MSX2, CCND1, GLIS3, EP300, GDNF, HGF, GSC, RPS6KA3, TP63, ALX4, INS, GATA1, CTNNB1, SUFU, DVL3, ETV6, PITX3, PITX2, BRCA1, AKT1, SOX2, VDR, ASCL1, SIX1, ATXN1, ERBB3, TAF2, SOX18, EZH2, DNMT3B, EFNB1, PTEN, LZTR1, MAF, ESRRB, ZEB2, DLX5, NR2F1, RB1, YAP1, NGF, HNRNPK, PAX3, FOXC2, FOXG1, TGFB1, GATA4, TBP, RAX, FGF10, NSD1, STAT3, TCF4, TFAP2B, TP53, DNMT1, DNMT3A, HOXA2, ADAMTSL4, SOX11, EGFR, DLX3, SMAD3, POU4F3, SHH

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?THROMBOXANE SYNTHASE DEFICIENCY, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), 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, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, PELGER-HUET ANOMALY, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CARDIOFACIOCUTANEOUS SYNDROME, {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}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNELIA DE LANGE SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, PORENCEPHALY 1, ?RETINAL ARTERIES, TORTUOSITY OF, OSTEOGENESIS IMPERFECTA, TYPE VIII, ?REYNOLDS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MANDIBULOACRAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, DIAMOND-BLACKFAN ANEMIA 9, CEREBROTENDINOUS XANTHOMATOSIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, OSTEOGENESIS IMPERFECTA, TYPE IV, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, HYPERFERRITINEMIA-CATARACT SYNDROME, ?OPTIC ATROPHY 9, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, NEPHROTIC SYNDROME, TYPE 8, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, RENAL TUBULAR DYSGENESIS, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, LEBER OPTIC ATROPHY, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SEGAWA SYNDROME, RECESSIVE, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, COLE-CARPENTER SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, VITAMIN D-DEPENDENT RICKETS, TYPE I, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], MUSCULAR DYSTROPHY, CONGENITAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, IMMUNODEFICIENCY 33, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OSTEOGENESIS IMPERFECTA, TYPE II, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, ETHYLMALONIC ENCEPHALOPATHY, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FOCAL FACIAL DERMAL DYSPLASIA 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, TANGIER DISEASE, LATHOSTEROLOSIS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, GLAUCOMA 1A, PRIMARY OPEN ANGLE, SPINOCEREBELLAR ATAXIA 17, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, CORNEAL FLECK DYSTROPHY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, INFANTILE CEREBELLAR-RETINAL DEGENERATION, RESTRICTIVE DERMOPATHY, LETHAL, ALEXANDER DISEASE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HUTCHINSON-GILFORD PROGERIA, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, AGAMMAGLOBULINEMIA 3, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LEOPARD SYNDROME 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

LMNA, APOB, COL1A1, NR4A2, LBR, CYP27A1, IKBKG, COL1A2, RPL5, FTL, AGT, GFAP, PPARG, ETHE1, GATA4, PHF8, TH, POR, ARHGDIA, CYB5R3, P3H2, CYP26C1, P3H1, MAFB, RBPJ, CYP2R1, APOA1, CYP4V2, QDPR, CYP7B1, AR, P4HB, CD79A, IGBP1, PITX3, PLOD3, LEP, MSMO1, ABCA1, PLOD1, KMT2C, NR1I3, IFNG, ACP5, PIKFYVE, EEF1A2, EP300, NDUFS2, HSPD1, PAH, MT-CYB, RPS10, PCNA, BRAF, INS, SMC3, MT-CO1, CP, TTR, CTNNB1, IGF1, KRT5, CBS, CYP27B1, SC5D, FA2H, VHL, COL4A1, PPP2R1A, AKT1, VDR, FOXP1, IGF1R, TP53, UBE3A, EGFR, ALOX12B, HGF, GLI3, SNCA, HSPA9, RUNX2, NGF, ITGB4, CYP1B1, TBP, MT-CO2, FXN, INSR, IL6, GATA6, HCFC1, KMT2D, TBXAS1, ACO2, ALOXE3, SMAD3, ALB, PIK3R1, EPM2A, MTRR, FTO

MULLERIAN APLASIA AND HYPERANDROGENISM, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, SUPRANUCLEAR PALSY, PROGRESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, VERHEIJ SYNDROME, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?EXUDATIVE VITREORETINOPATHY 6, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, DYSTONIA-11, MYOCLONIC, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {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, DYSAUTONOMIA, FAMILIAL, ABLEPHARON-MACROSTOMIA SYNDROME, BRACHIOOTIC SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MULTIPLE SYNOSTOSES SYNDROME 1, MANDIBULOACRAL DYSPLASIA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ECTOPIA LENTIS ET PUPILLAE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CRANIOSYNOSTOSIS 4, LEUKODYSTROPHY, HYPOMYELINATING, 11, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IC, VAN DER WOUDE SYNDROME 2, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ACHONDROPLASIA, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LANGER MESOMELIC DYSPLASIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, COFFIN-SIRIS SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, GLAUCOMA 1A, PRIMARY OPEN ANGLE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, CRANIOSYNOSTOSIS 3, STRIATONIGRAL DEGENERATION, INFANTILE, FRONTONASAL DYSPLASIA 1, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HAY-WELLS SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EMBERGER SYNDROME, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, KLEEFSTRA SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, BRACHYDACTYLY, TYPE E2, GLYCOGEN STORAGE DISEASE IA, ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 5, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FRONTONASAL DYSPLASIA 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, RETINITIS PIGMENTOSA 72, WAARDENBURG SYNDROME, TYPE 3, FRAGILE X SYNDROME, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, BARBER-SAY SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 2, DEAFNESS, X-LINKED 5, MELNICK-FRASER SYNDROME, MARSHALL-SMITH SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, WARBURG MICRO SYNDROME 1, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, ?FIBROMATOSIS, GINGIVAL, 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, APHAKIA, CONGENITAL PRIMARY, DEAFNESS, AUTOSOMAL RECESSIVE 39, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, CROUZON SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, {OROFACIAL CLEFT 6}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, RETINITIS PIGMENTOSA 27, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, HOLOPROSENCEPHALY-7, ?SPINOCEREBELLAR ATAXIA 26, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, DEAFNESS, AUTOSOMAL DOMINANT 23, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LOEYS-DIETZ SYNDROME 2, OHDO SYNDROME, X-LINKED, WAARDENBURG SYNDROME, TYPE 2D, POLYMORPHOUS CORNEAL DYSTROPHY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, KABUKI SYNDROME 2, ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {AUTISM, SUSCEPTIBILITY TO, 18}, OSTEOGENESIS IMPERFECTA, TYPE IV, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ISCHIOCOXOPODOPATELLAR SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?ABRUZZO-ERICKSON SYNDROME, MULIBREY NANISM, SOTOS SYNDROME 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, VELOCARDIOFACIAL SYNDROME, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, ARTHROGRYPOSIS, DISTAL, TYPE 8, 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, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, TARSAL-CARPAL COALITION SYNDROME, DYSTONIA 9, MALOUF SYNDROME, LEOPARD SYNDROME 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SEGAWA SYNDROME, RECESSIVE, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?OROFACIAL CLEFT 15, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CHAR SYNDROME, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CLEFT PALATE, ISOLATED, MUSCULAR DYSTROPHY, CONGENITAL, LAMB-SHAFFER SYNDROME, CATARACT 5, MULTIPLE TYPES, DIGEORGE SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, SPINOCEREBELLAR ATAXIA 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, NOONAN SYNDROME 10, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, DEAFNESS, AUTOSOMAL DOMINANT 64, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, AMYOTROPHY, HEREDITARY NEURALGIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, JAWAD SYNDROME, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOPS SYNDROME, BRANCHIOOTIC SYNDROME 1, LOEYS-DIETZ SYNDROME 5, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PENDRED'S SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, ADULT SYNDROME, HYPOBETALIPOPROTEINEMIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, KLIPPEL-FEIL SYNDROME 2, TUMOR PREDISPOSITION SYNDROME, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, KERATOCONUS 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, PARIETAL FORAMINA 1, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, MACULAR DEGENERATION, EARLY-ONSET, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, COUSIN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, GLASS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARTINGTON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, THANATOPHORIC DYSPLASIA, TYPE II, TRICHODONTOOSSEOUS 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, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {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, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PCWH SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CILIARY DYSKINESIA, PRIMARY, 22, OSTEOGENESIS IMPERFECTA, TYPE III, OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY, USHER SYNDROME TYPE 3B, VAN DER WOUDE SYNDROME, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, BOHRING-OPITZ SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, MICROPHTHALMIA, SYNDROMIC 12, LIMB-MAMMARY SYNDROME, CORNELIA DE LANGE SYNDROME 2, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COMBINED SAP DEFICIENCY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, SERKAL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MENTAL RETARDATION, X-LINKED 45, TOOTH AGENESIS, SELECTIVE, 3, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, KOSAKI OVERGROWTH SYNDROME, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, PRADER-WILLI SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, DEAFNESS, AUTOSOMAL RECESSIVE 35, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, TANGIER DISEASE, MICROPHTHALMIA, ISOLATED 3, ?CHARGE SYNDROME, CHARGE SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PROUD SYNDROME, CORNELIA DE LANGE SYNDROME 1, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, LOEYS-DIETZ SYNDROME 1, AYME-GRIPP SYNDROME, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, OPITZ-KAVEGGIA SYNDROME, AGNATHIA-OTOCEPHALY COMPLEX, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, MYHRE SYNDROME, RENAL ADYSPLASIA, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MOHR-TRANEBJAERG SYNDROME, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PALLISTER-HALL SYNDROME, THROMBOCYTOPENIA 5, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?FACIAL CLEFTING, OBLIQUE, 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ACHROMATOPSIA 7, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PAPILLORENAL SYNDROME, HYPOPHOSPHATASIA, INFANTILE, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, PRIMROSE SYNDROME, BARAITSER-WINTER SYNDROME 2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RETINITIS PIGMENTOSA 58, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LERI-WEILL DYSCHONDROSTEOSIS, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 15, SPINOCEREBELLAR ATAXIA 36, CATSHL SYNDROME, URBACH-WIETHE DISEASE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COWCHOCK SYNDROME, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, 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, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, EXUDATIVE VITREORETINOPATHY 1, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SOTOS SYNDROME 2, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, BAMFORTH-LAZARUS SYNDROME, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, WEAVER SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?OTOFACIOCERVICAL SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 15, SHPRINTZEN-GOLDBERG SYNDROME, HOLOPROSENCEPHALY-9, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, CORNELIA DE LANGE SYNDROME 4, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, NEUROFIBROMATOSIS, TYPE 2, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?MICROPHTHALMIA, SYNDROMIC 11, 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, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, 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, LISSENCEPHALY 3, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CATARACT 21, MULTIPLE TYPES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 30, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, TREACHER COLLINS SYNDROME 3, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CRANIOSYNOSTOSIS 6, DEAFNESS, AUTOSOMAL RECESSIVE 68, TIETZ ALBINISM-DEAFNESS SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, 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, SMITH-KINGSMORE SYNDROME

TCF12, CA2, APOE, HGF, ZMYND10, MPDZ, VAX1, SIX6, TBX22, GNAS, GLI3, RPL5, RBBP8, CDC6, TRIP4, AKT2, CHD8, NOG, EGR2, ERCC6, G6PC, WNK1, GFI1B, TGFBR2, ADSL, CREBBP, KMT2C, SPECC1L, NONO, NF2, SOX2, KDM6A, ERBB3, ISG15, CD79A, GATAD2B, FOXE1, THRA, BUB1B, MTOR, TAF6, PIK3CD, MRE11A, AIFM1, CBL, SMARCE1, CCND1, HSPD1, ROR2, RPS10, GAD1, TNNT2, RELN, TP63, DUSP6, NDUFA10, SMC3, GATA1, TBX1, BANF1, ALDOA, AGL, CTNNB1, SUFU, SMAD4, DVL3, ETV6, GDNF, FOXC1, HDAC6, PCK1, PQBP1, NUP62, PPP2R1A, TUBB, AKT1, AIP, ALX3, EZH2, TWIST1, RBMX, IL1B, HSPA9, NRL, ZMYND11, ZEB2, SLC2A1, HNRNPK, DIABLO, PTPN11, GATA4, RAX, VPS11, ELP4, TFAP2B, SALL4, PAX9, GPX4, BDNF, CTCF, SOX11, ATF6, FOXE3, EGFR, SPG7, POLR3B, ALB, SKI, CTNNA1, KMT2A, MMP1, NR4A2, ACTB, HSF4, ACTN1, NGF, GFAP, ZIC1, HCFC1, MYH7, ZBTB20, BAG3, SLC35A2, ROBO3, NBN, S1PR2, DLL4, CAPN3, NR2E3, ZNF408, SF3B4, SOX9, HOXB1, FOXL2, TFAP2A, CYP7B1, RSPO1, SP7, PURA, NOTCH1, MYCN, ERCC3, MEF2C, KIF2A, AFF4, MSX2, DLX4, MAFB, VPS33B, KAT6B, ZNF81, HARS, BAP1, MCPH1, HOXA11, RB1, STAT3, RARB, KAT6A, ALPL, MYOC, IGF1, GHR, EEF2, NFKB2, EDNRB, NDN, SMC1A, DRD2, KANSL1, VDR, ASCL1, DVL1, ATXN1, TP53, SOX18, IKBKB, MYH2, MAF, ESRRB, AIRE, AR, SHOX, PAX3, ACTG1, ASXL1, FOXP1, FOXG1, TGFB1, PEPD, CYP1B1, KMT2D, IGF1R, PARK2, GRHL3, EFEMP2, LDLR, DNMT1, TINF2, IL6, ADAMTSL4, POLR1C, APC, WNT4, SMAD3, HSPG2, CDH1, DDX58, POU4F3, SATB2, GATA2, LMNA, F2, PAFAH1B1, PRPF31, SALL1, RAD21, ATRX, CDK6, IKBKG, MSX1, EFTUD2, AGT, SEPT9, LEP, CDK5, KDM1A, FOXI1, ERCC8, APOB, CC2D1A, STK11, FMR1, NDRG1, CDKN1C, TH, NOP56, BMPER, ECM1, GATA3, COL2A1, RBPJ, GLI2, ARNT2, ACTA1, DNM1, GRIP1, SMARCA4, RUNX1, TWIST2, LZTR1, IGF2, PGK1, PTF1A, NR1I3, MAPT, POU3F4, TK2, ABCA1, APTX, NFKBIA, KARS, SOX5, ICK, POLR1D, GLIS3, NR2F1, GSC, IRF8, RPS6KA3, ACVR1, ALX4, INS, DDX3X, FOXP2, PITX3, PAX2, LMX1B, STAT1, FLNA, SYN1, RORC, VHL, BRCA1, PHC1, BIN1, FOXC2, SALL2, RUNX2, IHH, RHO, VSX1, FGFR3, SOX10, SMARCB1, HDAC8, UBB, STUB1, PUF60, STXBP1, ERF, TBP, FGF10, NTRK1, DKC1, TCF4, SOS1, TIMM8A, SP110, GATA6, ACD, HRAS, OCLN, TAF2, IRF6, TRIM37, TBX4, BRCA2, POLR1A, PRPF8, COL1A1, CNBP, PABPN1, TAP1, TBX3, MYO5A, PPARG, OTX2, PTHLH, EDN1, PAX1, BTK, OVOL2, CDKN2A, SIX3, TGM1, BMP4, ERCC2, SNAI2, PDGFRB, MEOX1, POU1F1, PHOX2A, MITF, PTCH1, SMARCA2, CHD7, KRAS, RBM8A, PAX6, PRRX1, TARDBP, LHX3, HELLS, MECOM, IKBKAP, HOXA2, IFNG, RAB3GAP1, HTT, ZIC3, NKX3-2, MPZ, EP300, TAF1, ZBTB16, EYA1, PCNA, GDF2, PAX8, TUBA8, TTR, GJA1, ACE, MYH3, ZIC2, TBX6, MECP2, ZNF513, TGFB3, SIX1, FBN2, CCND2, PRKDC, WNT5A, DNMT3A, VCP, MED12, SLC25A4, ZBTB18, TUBA1A, ITCH, DLX3, NFIX, TBX15, ACVRL1, DLX5, SKIV2L, PAH, HESX1, NME1, YAP1, PSAP, DHCR7, PMP22, ATM, NSD1, POLR3A, TRPS1, PITX2, DIAPH1, FGFR2, SPAST, RPL11, WNT1, RET, ARX, PTEN, HACE1, DNMT3B, MYH11, PIK3R1, SHH

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, NICOLAIDES-BARAITSER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ?STICKLER SYNDROME, TYPE V, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?EXUDATIVE VITREORETINOPATHY 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, DEAFNESS, AUTOSOMAL DOMINANT 11, JOUBERT SYNDROME 4, CARASIL SYNDROME, CAMURATI-ENGELMANN DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, AMELOGENESIS IMPERFECTA, TYPE 1E, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?STEEL SYNDROME, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, GLAUCOMA 1A, PRIMARY OPEN ANGLE, VOHWINKEL SYNDROME WITH ICHTHYOSIS, DIAMOND-BLACKFAN ANEMIA 4, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, DERMATOPATHIA PIGMENTOSA RETICULARIS, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HAY-WELLS SYNDROME, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, CATARACT 39, MULTIPLE TYPES, AUTOSOMAL DOMINANT, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?CATARACT 42, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, TRIGONOCEPHALY 1, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPOTRICHOSIS 12, DEAFNESS, AUTOSOMAL DOMINANT 17, KEUTEL SYNDROME, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, RETINITIS PIGMENTOSA 72, EXUDATIVE VITREORETINOPATHY 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 5, MACULAR DYSTROPHY, VITELLIFORM, 4, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ECTOPIA LENTIS ET PUPILLAE, KARTAGENER SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, DEAFNESS, AUTOSOMAL RECESSIVE 29, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 13, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CATARACT 9, MULTIPLE TYPES, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, CATARACT 19, MULTIPLE TYPES, DIAMOND-BLACKFAN ANEMIA 3, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 9, CORTICAL MALFORMATIONS, OCCIPITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, AMELOGENESIS IMPERFECTA, TYPE IF, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CORNEAL DYSTROPHY, AVELLINO TYPE, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, PACHYONYCHIA CONGENITA 2, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PIERSON SYNDROME, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DEAFNESS, AUTOSOMAL RECESSIVE 37, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?PERRAULT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CATARACT 22, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 8, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, CATARACT 5, MULTIPLE TYPES, CINCA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, ARTHROGRYPOSIS, DISTAL, TYPE 8, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, TARSAL-CARPAL COALITION SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ADAMS-OLIVER SYNDROME 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, EVEN-PLUS SYNDROME, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, KNOBLOCH SYNDROME 1, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, MUSCULAR DYSTROPHY, CONGENITAL, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, ALAGILLE SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, TRABOULSI SYNDROME, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTRICHOSIS 8, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, SESAME SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, RETINITIS PIGMENTOSA 11, ADULT SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PITYRIASIS RUBRA PILARIS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, REVESZ SYNDROME, MEESMANN CORNEAL DYSTROPHY, MACULAR DEGENERATION, EARLY-ONSET, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, USHER SYNDROME, TYPE 1B, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SENIOR-LOKEN SYNDROME 4, ?OPTIC ATROPHY 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, FECHTNER SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DEJERINE-SOTTAS DISEASE, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PCWH SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE III, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, DEAFNESS, AUTOSOMAL RECESSIVE 18B, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, LIMB-MAMMARY SYNDROME, HYPOPHOSPHATEMIC RICKETS, AR, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COMBINED SAP DEFICIENCY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 89, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CATARACT 12, MULTIPLE TYPES, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, RETINITIS PIGMENTOSA 56, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MACULAR DYSTROPHY, VITELLIFORM, 5, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, DIAMOND-BLACKFAN ANEMIA 10, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 21, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, PACHYONYCHIA CONGENITA 1, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CUTIS LAXA, AD, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, STEATOCYSTOMA MULTIPLEX, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, CATARACT 2, MULTIPLE TYPES, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2D, MASA SYNDROME, CRASH SYNDROME, THROMBOCYTOPENIA 5, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MARSHALL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, TRANSALDOLASE DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CILIARY DYSKINESIA, PRIMARY, 5, CARDIOFACIOCUTANEOUS SYNDROME, ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, EPISODIC ATAXIA, TYPE 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, ?DEAFNESS, AUTOSOMAL DOMINANT 68, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CORNEAL OPACIFICATION AND OTHER OCULAR ANOMALIES, LEUKODYSTROPHY, HYPOMYELINATING, 4, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, OCULODENTODIGITAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, WHITE SPONGE NEVUS 2, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TUBEROUS SCLEROSIS 2, SPINOCEREBELLAR ATAXIA 6, GALACTOSIALIDOSIS, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?DEAFNESS, X-LINKED 6, ?BARDET-BIEDL SYNDROME 11, SENIOR-LOKEN SYNDROME-1, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, STICKLER SYNDROME, TYPE II, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, MACROCEPHALY/AUTISM SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 53, NEUROFIBROMATOSIS, TYPE 2, MYOPATHY, SPHEROID BODY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ECTOPIA LENTIS, FAMILIAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, 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, DENTIN DYSPLASIA, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, DEAFNESS, AUTOSOMAL RECESSIVE 2, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS 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, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, DYSAUTONOMIA, FAMILIAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

PEX5, ISCA2, LMNA, GFI1B, EZH2, LAMB1, LAMA1, CDK5, FBN1, MPDZ, PRPF31, CFL2, DES, CNBP, GP1BA, MEF2C, AMELX, RPS17, HSF4, IKBKG, RPS7, CTSA, MAPT, SMARCA4, RPL5, MYO7A, IMPG2, CAV1, MAG, INS, AGT, KRT74, GFAP, PPARG, ZNF408, COL5A1, KRT5, PTHLH, SNCA, NPHP4, CDH1, ELN, DDR2, SOX10, F2, PLG, CDKN2A, SPG7, NOG, EGR2, HGF, EFEMP2, COL4A5, IKBKAP, SPTAN1, LAMB2, CLDN14, DNM2, NOP56, TRIM32, VCAN, AMBN, BMP4, ACY1, BMPER, PHEX, SNAI2, AGRN, PDGFRB, RPL26, TTC19, CAPN3, ECM1, NR2E3, CLDN19, KRT13, MYO6, PXDN, MATR3, SF3B4, STXBP1, ACTA1, DNM1, NF2, ACTB, GRIP1, SUCLA2, F13A1, KRAS, TP53, DSP, TUBA1A, BRAF, EGFR, CREBBP, LOR, MAP2K2, P4HB, CARD14, CRYAA, VWF, NOTCH1, MYCN, MYO5A, LMNB1, CCND1, DAG1, KCNJ10, RYR1, FGFR1, CD3E, LEP, MYOT, COL3A1, PIK3CD, HNRNPDL, GFM1, NFKBIA, MYO18B, AIFM1, NLRP3, DCX, COL11A2, COL18A1, TUBB4A, MRPL44, MET, IL6, IFNG, TPM2, KARS, EFTUD2, COL4A6, TALDO1, KRT16, DCN, MPZ, EP300, TGFB1, LIM2, CACNA1A, RBPJ, RPS28, HYDIN, FGF23, TUBGCP4, KRT6C, ACTA2, TNNT2, MYH3, COL9A2, ADAMTSL4, PSAP, RPS6KA3, KRT25, TP63, NUP62, CRYBA2, FBN2, ACD, IGF1, BIN1, LAMB3, COL7A1, LAMA3, TUBA8, CAV3, TTR, GRIN2B, DDX3X, KRT12, GJA1, SOX9, BLNK, CTNNB1, IMPG1, INPP5E, ERCC3, COL4A1, PLEC, ETV6, MRPS16, COL8A2, GALNT3, LAMA2, PDCD1, LYST, KLC2, GMPPB, TGFB2, EEF2, MYOC, CNTN1, HSPD1, DMD, VHL, KIF1B, COL4A4, TUBB, MFAP5, PLK4, ITGB2, COL4A3, AKT1, TUBB3, SLC9A1, VDR, FHL1, BRCA1, LRPPRC, BFSP2, PARK2, WAS, RPS26, COL17A1, UBE3A, LRP2, NEFL, HARS2, SMARCA2, DCTN1, CBL, COL27A1, RPS10, ASPH, LAMC3, HTRA1, LMNB2, JAG1, IL1B, TTN, FANCA, HSPA9, EFNB1, CRYGB, PTEN, TRPV4, MUSK, ADAM17, MGP, SHANK3, PLOD3, ITGA6, STAT3, RUNX2, SUMF1, COL2A1, PRKDC, DSPP, FLNA, CORO1A, TUBB2B, MYH11, NGF, AIMP1, HNRNPK, TUBG1, CRYBB3, ACTG1, CLDN16, KRT17, NPHP1, CLDN1, PIK3R2, PTPN11, COL1A1, SMAD4, ITGA2B, MYH9, COL11A1, CAST, MRPS22, NEB, MT-CO2, ATXN1, RBMX, RPS19, COL5A2, OTOG, SOS1, ITGB4, KRT14, CRYGC, DYRK1A, DNMT1, PTPRC, CD3G, HOMER2, RPL11, CRYAB, L1CAM, KRT3, BDNF, ATP5A1, RET, DGUOK, KRT85, SPTBN2, ACTN1, RPS24, HRAS, COL1A2, ACO2, TGFBI, LRP1, COL25A1, PRKACA, MYH8, OCLN, RPL21, SMAD3, ATR, COMP, HSPG2, EXT2, ITGB3, SHH, TINF2, CTNNA1, TUFM, DMP1, PIK3R1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], CAMURATI-ENGELMANN DISEASE, GLUTAMINE DEFICIENCY, CONGENITAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, JOUBERT SYNDROME 25, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HUTCHINSON-GILFORD PROGERIA, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, GLYCOGEN STORAGE DISEASE XII, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MANDIBULOACRAL DYSPLASIA, RENAL TUBULAR DYSGENESIS, JOHANSON-BLIZZARD SYNDROME, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, FOLATE MALABSORPTION, HEREDITARY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, RETINOSCHISIS, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 9, ADAMS-OLIVER SYNDROME 3, LEBER OPTIC ATROPHY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, FRAXE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, SEGAWA SYNDROME, RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, DIHYDROPYRIMIDINURIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MACROCEPHALY/AUTISM SYNDROME, EPISODIC ATAXIA, TYPE 6, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NICOLAIDES-BARAITSER SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, DEAFNESS, AUTOSOMAL RECESSIVE 89, CHOROID PLEXUS PAPILLOMA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, GALACTOSE EPIMERASE DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, RESTRICTIVE DERMOPATHY, LETHAL, ALEXANDER DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 9, HYPEROXALURIA, PRIMARY, TYPE 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

PEX5, PRKDC, SMARCA2, QDPR, MT-CYB, CTNNB1, GJA1, TP53, CAV3, TH, SLC46A1, EP300, SERPINA1, PTEN, DPYS, MTHFR, DDC, VWF, CBS, UBR1, GLUL, ALDOA, IGF1R, SLC1A3, AGT, TGFB1, RARS, MT-CO2, LEP, LMNA, AARS, YARS2, MTOR, AKT1, GFPT1, BIN1, GALE, GPX4, KIF5C, KIF1BP, FHL1, GLUD2, IL6, AGXT, KARS, GCH1, NEFL, HTT, PCNA, SUCLA2, GRIN2B, DES, HSPD1, DHFR, HRAS, EGFR, RPS10, GAD1, RS1, SNAP25, CEP104, IL1B, IGF1, ALB, SNAP29, RBPJ, INS, PAH, GFAP, ATIC

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BARAITSER-WINTER SYNDROME 1, EPISODIC ATAXIA, TYPE 5, HYPER-IGE RECURRENT INFECTION SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONE-ROD DYSTROPHY, X-LINKED, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, FECHTNER SYNDROME, STORMORKEN SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 1, DEJERINE-SOTTAS DISEASE, EPISODIC ATAXIA, TYPE 2, AURICULOCONDYLAR SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ALTERNATING HEMIPLEGIA OF CHILDHOOD, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, SEBASTIAN SYNDROME, FRAXE, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, TUBEROUS SCLEROSIS 2, MYOPATHY, TUBULAR AGGREGATE, 2, SPINOCEREBELLAR ATAXIA 6, MYOPATHY, DISTAL, TATEYAMA TYPE, MUCOLIPIDOSIS IV, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TIMOTHY SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 77, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SENIOR-LOKEN SYNDROME-1, QUESTION MARK EARS, ISOLATED, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, OLMSTED SYNDROME, IMMUNODEFICIENCY 10, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1D, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 17, JOUBERT SYNDROME 4, DARIER DISEASE, EPSTEIN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, AMELOGENESIS IMPERFECTA, TYPE IIA5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, DEAFNESS, AUTOSOMAL DOMINANT 36, MENTAL RETARDATION, X-LINKED 21/34, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, OSTEOLYSIS, FAMILIAL EXPANSILE, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, RETINAL CONE DYSTROPHY 4, IMMUNODEFICIENCY 9, SPINOCEREBELLAR ATAXIA 42, BRACHYOLMIA TYPE 3, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

IL1RAPL1, STIM1, CAV3, CACNA2D4, CACNA1G, TRPV4, NGF, TSC2, ATP2B3, TUBG1, SERPINA1, PTEN, P2RX1, MCOLN1, NALCN, NPHP1, GRM1, CCND1, MYH9, RYR1, CACNA1C, CHRNE, ATP1A2, EGR2, TRPV3, AKT1, CTNNB1, ITPR2, SLC24A5, GJA1, ORAI1, TNFRSF11A, VCP, SLC24A4, CACNA1F, EGFR, CACNA1S, GRIN2B, ITPR1, CACNA1B, CACNA1A, EDN1, SLC24A1, ATP2B2, CACNB4, ACTB, STXBP1, SMAD3, ATP2A2, STAT3, PIK3R1, LOXHD1, INS, PAM16, CACNA1D, TMC1

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?INFANTILE LIVER FAILURE SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, USHER SYNDROME TYPE 3B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 9, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, MYHRE SYNDROME, ?PERRAULT SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, PERRAULT SYNDROME 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, 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, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, DEAFNESS, AUTOSOMAL RECESSIVE 89

LARS, YARS2, AIMP1, QARS, SMAD4, DARS2, DARS, CARS2, IARS2, RARS, NARS2, HARS2, EARS2, VARS2, KARS, MARS2, HARS, HSPD1, AARS, RARS2, LARS2, FARS2, AARS2

TUBEROUS SCLEROSIS 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, VAN DER WOUDE SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, {OROFACIAL CLEFT 6}, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, DESMOSTEROLOSIS, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}

TAP1, DHCR24, IFNG, HLA-DRB1, IRF6, HLA-DQB1, HLA-B, HLA-DQA1, HSPD1, TAPBP

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SMED STRUDWICK TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BARTTER SYNDROME, TYPE 2, ?FIBROMATOSIS, GINGIVAL, 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MYASTHENIC SYNDROME, CONGENITAL, 10, CORNEAL DYSTROPHY, AVELLINO TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, CEROID LIPOFUSCINOSIS NEURONAL 6, TREACHER COLLINS SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ?SPINOCEREBELLAR ATAXIA 26, DYSTONIA-11, MYOCLONIC, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {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}, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, DYSAUTONOMIA, FAMILIAL, NIEMANN-PICK DISEASE, TYPE A, ?DYSTONIA 23, BARDET-BIEDL SYNDROME 3, AURICULOCONDYLAR SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, COENZYME Q10 DEFICIENCY, PRIMARY, 3, GLYCOGEN STORAGE DISEASE XII, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, RENAL TUBULAR DYSGENESIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADULT SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARDET-BIEDL SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, NIEMANN-PICK DISEASE TYPE C1, BARDET-BIEDL SYNDROME 7, OCULODENTODIGITAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, SPINOCEREBELLAR ATAXIA 15, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, LOEYS-DIETZ SYNDROME 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, DIAMOND-BLACKFAN ANEMIA 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, RETINOSCHISIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, NEPHROTIC SYNDROME, TYPE 8, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, FRANK-TER HAAR SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, DEAFNESS, AUTOSOMAL DOMINANT 41, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, FRAXE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, BARAITSER-WINTER SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, GLUTAMINE DEFICIENCY, CONGENITAL, CHOROID PLEXUS PAPILLOMA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, RETINITIS PIGMENTOSA 74, ALAGILLE SYNDROME 2, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HUNTINGTON DISEASE, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MACROCEPHALY/AUTISM SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, WISKOTT-ALDRICH SYNDROME, MARINESCO-SJOGREN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, ?MYASTHENIC SYNDROME, CONGENITAL, 18, NIEMANN-PICK DISEASE, TYPE B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, TANGIER DISEASE, ANDERSEN SYNDROME, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, EXUDATIVE VITREORETINOPATHY 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, SPINOCEREBELLAR ATAXIA 17, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LISSENCEPHALY 3, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, CATARACT 18, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BARDET-BIEDL SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BARDET-BIEDL SYNDROME 2, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SMITH-KINGSMORE SYNDROME, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, HAY-WELLS SYNDROME, LEPRECHAUNISM, TREACHER COLLINS SYNDROME 3, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, HYPOBETALIPOPROTEINEMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, AGAMMAGLOBULINEMIA 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MYHRE SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BANNAYAN-RILEY-RUVALCABA SYNDROME, LEBER CONGENITAL AMAUROSIS 15, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, LOEYS-DIETZ SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 4C, 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, RETINITIS PIGMENTOSA 70, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

NF1, APOE, CAV1, PAFAH1B1, SBF2, PGK1, CACNA1B, TBXA2R, RPL5, SNX10, F2, TBX3, AGT, GFAP, PPARG, CDK5, BBS4, NCF4, PCYT1A, EDN1, BTK, APOB, SOX10, KMT2A, CDKN2A, NDRG1, ITCH, RAPSN, SPTAN1, DNM2, DOK7, DES, PIK3CA, TGFBI, NPC1, ASPM, BBS2, AP5Z1, ARHGDIA, SBF1, MTMR2, SMAD4, CAPN3, COL2A1, CTNNB1, RAG2, ACTA1, SOX9, ACTB, CHD7, ECHS1, DRD2, APOA1, TUBA1A, RPS7, QDPR, TULP1, CREBBP, NME1, CD79A, PIGT, NOTCH2, GLUL, KCNJ1, LRP1, SYT14, CASK, OPHN1, ACTN1, PIK3CD, ABCA1, GTPBP3, CBL, IKBKAP, CCND1, IL6, ATP6V1B1, HTT, POLR1D, GLIS3, SYT2, ITPR1, HSPD1, KRIT1, ACTA2, RB1, AP4B1, TP63, INS, SNAP25, CAV3, TTR, TGFBR1, ITGB3, GJA1, IGF1, DVL3, SMPD1, FYCO1, STAT1, HDAC6, APOA2, EEF2, P2RX2, DMD, NUP62, PPP2R1A, GRIN2B, TUBB, F10, MTOR, ITGB2, AKT1, BIN1, TPI1, PRKDC, FHL1, ATXN1, WAS, TP53, EGFR, IKBKB, DCTN1, BBS7, SNCA, IL1B, ARL6, SIL1, VPS35, PTEN, TRPV4, MUSK, SNAP29, AMER1, ITPR2, MTM1, HRAS, COL4A3BP, TERT, BBS5, FLNA, NGF, PDSS2, HNRNPK, INPPL1, TGFB1, STXBP1, PTPN11, PRPF4, PCLO, ZFYVE26, STAT3, CACNA1C, INSR, PLG, SOS1, LDLR, PDGFRB, DNMT1, ALDOA, LRP5, SNX14, DCN, L1CAM, ACD, PCNA, SERPINA1, POLR1C, TBP, SPTBN2, KCNJ2, LRP6, EDNRB, LRP2, MAPT, RS1, POLR3B, SMAD3, SH3PXD2B, ALB, HSPG2, TGFBR2, KIF1BP, RARS, PIK3R1

BARAITSER-WINTER SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), MENTAL RETARDATION, X-LINKED 102, MICROPHTHALMIA WITH COLOBOMA 5, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LUJAN-FRYNS SYNDROME, WIEDEMANN-STEINER 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, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MACHADO-JOSEPH DISEASE, COWCHOCK SYNDROME, GILLESPIE SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, DYSAUTONOMIA, FAMILIAL, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, KLEEFSTRA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, AURICULOCONDYLAR SYNDROME 3, ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, {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, APLASIA OF LACRIMAL AND SALIVARY GLANDS, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 19, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, HUNTINGTON DISEASE, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FOVEAL HYPOPLASIA 1, LOEYS-DIETZ SYNDROME 3, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, SPINOCEREBELLAR ATAXIA 36, CRANIOSYNOSTOSIS, TYPE 2, AGNATHIA-OTOCEPHALY COMPLEX, COFFIN-SIRIS SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, FLOATING-HARBOR SYNDROME, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, SPINOCEREBELLAR ATAXIA 17, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE IA, WAARDENBURG SYNDROME, TYPE 3, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WAARDENBURG SYNDROME, TYPE 4C, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, CHAR SYNDROME, WEAVER SYNDROME, TOOTH AGENESIS, SELECTIVE, 3, EVEN-PLUS SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, SPINOCEREBELLAR ATAXIA 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, RETINITIS PIGMENTOSA 60, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY 33, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, QUESTION MARK EARS, ISOLATED, ?DYSTONIA, JUVENILE-ONSET, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, DEAFNESS, AUTOSOMAL RECESSIVE 35, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COFFIN-SIRIS SYNDROME 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PITT-HOPKINS SYNDROME, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATAXIA-TELANGIECTASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPATHY, NEONATAL SEVERE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FRAGILE X SYNDROME, OHDO SYNDROME, X-LINKED, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, RETINITIS PIGMENTOSA 62, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, INCONTINENTIA PIGMENTI, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DEAFNESS, X-LINKED 5, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, RETINITIS PIGMENTOSA 11, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, DYSTONIA-PARKINSONISM, X-LINKED, KARTAGENER SYNDROME, ?IMMUNODEFICIENCY 37, DEAFNESS, AUTOSOMAL RECESSIVE 39, MICROPHTHALMIA, SYNDROMIC 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TIETZ ALBINISM-DEAFNESS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, PARIETAL FORAMINA 1, XERODERMA PIGMENTOSUM, GROUP B, ACHROMATOPSIA 7, EXUDATIVE VITREORETINOPATHY 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, KABUKI SYNDROME 1, LADD SYNDROME, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AU-KLINE SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

HGF, PARK7, CD3D, PRPF31, PRRX1, ACTB, IKBKG, GLI3, ACTN1, MSX1, SMARCA4, AGT, PPARG, CDK5, MCIDAS, KDM1A, UBA1, CDC6, CTNNB1, TRIP4, KMT2A, AKT2, CDKN2A, FMR1, SPTAN1, TRIM32, NOP56, BMP4, ARHGDIA, MITF, CREBBP, POU1F1, GATA3, WWOX, RBPJ, SF3B4, ACTA1, SOX9, GRIP1, SOX2, RUNX1, PAX6, LZTR1, AR, NOTCH1, MYCN, ERCC3, CCND1, GATA2, MEF2C, TAF6, EGR2, LHX3, FZD4, MSX2, AIFM1, SMARCE1, IKBKAP, NR1I3, NFKBIA, TRIP11, HTT, EP300, TAF1, RUNX2, RB1, STAT3, ERCC8, ALX4, INS, KAT6A, PITX2, PAX8, GATA1, EDN1, DDX3X, VHL, GJA1, SMARCA2, SMAD4, GDNF, MECP2, RAPSN, ARL2BP, HDAC6, NFKB2, PQBP1, MAK, PPP2R1A, TUBB, BRCA1, AKT1, CCND2, SIK1, VDR, ATXN1, TP53, UBE3A, NEFL, MED17, ARID1B, EZH2, TWIST1, CDH1, ITCH, HSPA9, PTEN, MED12, TFAP2A, ESRRB, SOX10, DLX5, NR2F1, GDF2, AIP, ASXL1, YAP1, SMARCB1, HNRNPK, PAX3, ACTG1, ATXN2, PMP22, BCL10, SRCAP, ATM, GATA4, TBP, FGF10, ACVR1, TCF4, TFAP2B, TAF2, DNMT1, PRPF6, IL6, SALL2, PAX9, HOXA2, THRA, PUS1, HCFC1, KMT2D, SOX11, ATF6, HRAS, HACE1, ATXN3, SMAD3, ARID1A, SKI, MTOR, SHH

MULLERIAN APLASIA AND HYPERANDROGENISM, WAARDENBURG SYNDROME, TYPE 2A, BASAL CELL NEVUS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 30, SPONDYLOCOSTAL DYSOSTOSIS 5, BARAITSER-WINTER SYNDROME 1, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, VERHEIJ SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), BOHRING-OPITZ SYNDROME, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, MICROPHTHALMIA WITH COLOBOMA 5, BONE MARROW FAILURE SYNDROME 1, TARP SYNDROME, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PAPILLORENAL SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, LUJAN-FRYNS SYNDROME, WIEDEMANN-STEINER SYNDROME, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, 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, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BLEEDING DISORDER, PLATELET-TYPE, 17, WERNER SYNDROME, TOOTH AGENESIS, SELECTIVE, 3, MACHADO-JOSEPH DISEASE, FECHTNER SYNDROME, AMINOACYLASE 1 DEFICIENCY, GILLESPIE SYNDROME, CAMURATI-ENGELMANN DISEASE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, HOLOPROSENCEPHALY-9, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, DEJERINE-SOTTAS DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, KLEEFSTRA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACHROMATOPSIA 7, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, KABUKI SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 19, ATAXIA-TELANGIECTASIA-LIKE DISORDER, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, CRANIOSYNOSTOSIS 4, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {AUTISM, SUSCEPTIBILITY TO, 18}, BALLER-GEROLD SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CATARACT 21, MULTIPLE TYPES, OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY, OCULODENTODIGITAL DYSPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, USHER SYNDROME TYPE 3B, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 40, CRANIOSYNOSTOSIS 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, CATARACT 5, MULTIPLE TYPES, FOVEAL HYPOPLASIA 1, SECKEL SYNDROME 2, LOEYS-DIETZ SYNDROME 3, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, SPINOCEREBELLAR ATAXIA 36, SOTOS SYNDROME 1, CRANIOSYNOSTOSIS, TYPE 2, CHOANAL ATRESIA AND LYMPHEDEMA, VELOCARDIOFACIAL SYNDROME, AGNATHIA-OTOCEPHALY COMPLEX, COFFIN-SIRIS SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, RUBINSTEIN-TAYBI SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ROTHMUND-THOMSON SYNDROME, SMITH-KINGSMORE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, FLOATING-HARBOR SYNDROME, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SPINOCEREBELLAR ATAXIA 17, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SEBASTIAN SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, OHDO SYNDROME, X-LINKED, TIETZ ALBINISM-DEAFNESS SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, DYSTONIA 9, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ACHONDROGENESIS, TYPE IA, WAARDENBURG SYNDROME, TYPE 3, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, COWCHOCK SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WAARDENBURG SYNDROME, TYPE 4C, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SERKAL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, CHAR SYNDROME, CULLER-JONES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WEAVER SYNDROME, COUSIN SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, BLEEDING DISORDER, PLATELET-TYPE, 15, ?BARDET-BIEDL SYNDROME 11, SPINOCEREBELLAR ATAXIA 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, COFFIN-SIRIS SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, RETINITIS PIGMENTOSA 60, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, HUNTINGTON DISEASE, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, QUESTION MARK EARS, ISOLATED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, DEAFNESS, AUTOSOMAL RECESSIVE 35, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, JAWAD SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COFFIN-SIRIS SYNDROME 2, LADD SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, GENITOPATELLAR SYNDROME, WAARDENBURG SYNDROME, TYPE 2D, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, DARIER DISEASE, EPSTEIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, PITT-HOPKINS SYNDROME, PCWH SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATAXIA-TELANGIECTASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, CORNELIA DE LANGE SYNDROME 2, 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, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NAIL-PATELLA SYNDROME, ?IMMUNODEFICIENCY 37, AYME-GRIPP SYNDROME, ROBINOW SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, RETINITIS PIGMENTOSA 62, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, INCONTINENTIA PIGMENTI, SMITH-MAGENIS SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 8, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DEAFNESS, X-LINKED 5, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MELNICK-FRASER SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 23, BRANCHIOOCULOFACIAL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, RETINITIS PIGMENTOSA 11, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DYSTONIA-PARKINSONISM, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, DEAFNESS, AUTOSOMAL RECESSIVE 39, MICROPHTHALMIA, SYNDROMIC 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, DIGEORGE SYNDROME, DYSAUTONOMIA, FAMILIAL, SPINOCEREBELLAR ATAXIA 12, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PARIETAL FORAMINA 2, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, PARIETAL FORAMINA 1, XERODERMA PIGMENTOSUM, GROUP B, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, BRACHIOOTIC SYNDROME 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ALEXANDER DISEASE, KABUKI SYNDROME 1, CHEDIAK-HIGASHI SYNDROME, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IVIC SYNDROME, CORNELIA DE LANGE SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, CA2, PEX14, HGF, PARK7, CD3D, PRPF31, CFL2, SALL1, MEF2C, ACTB, HSF4, IKBKG, TWIST1, ACTN1, MSX1, SMARCA4, TBX3, RBBP8, GFAP, PPARG, CTNNB1, CDK5, OTX2, KDM1A, UBA1, RECQL4, WNT5A, TRIP4, SIX6, HCFC1, KMT2A, AKT2, CHD8, FMR1, PTRH2, NR2F1, BCOR, RAPSN, IKBKAP, SPTAN1, CDC6, MED13L, TRIM32, NOP56, BMP4, ACY1, BMPER, GFI1B, SNAI2, ARHGDIA, MITF, CREBBP, POU1F1, GATA3, MSX2, SIK1, RBPJ, PHC1, PTPN14, NONO, SMARCB1, ACTA1, SHOC2, GRIP1, KRAS, ERBB3, GLI2, PAX6, LZTR1, TRIP11, AR, VHL, WRN, NOTCH1, ZMYND11, MYCN, ERCC3, CCND1, GDNF, GATA2, PLOD3, PRRX1, TAF6, EGR2, PAX2, LHX3, FZD4, MRE11A, AIFM1, GJA1, SMARCE1, WWOX, NR1I3, NFKBIA, RBM10, CD40LG, HTT, GLIS3, SOX9, EP300, TAF1, EHMT1, ROR2, CHAT, KCTD1, ZBTB16, CRYM, PPP2R2B, SF3B4, GSC, PCNA, AGT, STAT3, ERCC8, VCP, AXIN2, TBX1, INS, KAT6B, SMC3, NFKB2, PAX8, GATA1, MED12, EDN1, GRIN2B, DDX3X, SHH, SLC35A2, VDR, DNM1, SUFU, SMAD4, SRP72, TBX6, MECP2, LMX1B, LYST, ARL2BP, HDAC6, CHD7, GDF2, PQBP1, MCIDAS, MAK, PPP2R1A, TUBB, SIX1, MTOR, AKT1, CCND2, SOX2, PRKDC, BRCA1, LRPPRC, ATXN1, RUNX1, TAF2, UBE3A, NEFL, PEX19, ARID1B, PPP2R5D, EZH2, GLI3, SMC1A, HARS, ITCH, TSHB, HSPA9, EFNB1, PTEN, FOXG1, TBX15, TFAP2A, MAF, ESRRB, KDM6A, DLX5, RUNX2, RB1, AIP, ATXN2, SLC2A1, NGF, HNRNPK, PAX3, RAI1, ACTG1, ARID1A, ASXL1, PUF60, TGFB1, PMP22, SRCAP, PRPF6, GATA4, KMT2D, CDKN2A, MYH9, FGF10, BCL10, NSD1, ACVR1, TCF4, SMARCA2, TFAP2B, PITX2, TP53, BLM, DNMT1, ATM, ALX4, IL6, SALL2, PAX9, HOXA2, THRA, PUS1, BDNF, SALL4, TBP, CTCF, SOX11, KAT6A, HRAS, HACE1, MED17, EGFR, ATXN3, WNT4, DNMT3B, NHP2, SMAD3, ATP2A2, ERF, ATF6, CDH1, SKI, YAP1, SOX10, CASK, PIK3R1

CORNEAL DYSTROPHY, LATTICE TYPE I, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, REVESZ SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, BEHR SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, MENTAL RETARDATION, X-LINKED 63, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, {PARKINSON DISEASE 8}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SECKEL SYNDROME 2, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DEAFNESS, AUTOSOMAL DOMINANT 11, GLUTARICACIDURIA, TYPE I, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 48, CARASIL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, {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, DYSAUTONOMIA, FAMILIAL, MOLYBDENUM COFACTOR DEFICIENCY A, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, CORNELIA DE LANGE SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 11, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, 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, BLEEDING DISORDER, PLATELET-TYPE, 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, DEAFNESS, AUTOSOMAL DOMINANT 40, SECKEL SYNDROME 7, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, TUBEROUS SCLEROSIS-1, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, LOEYS-DIETZ SYNDROME 3, DEAFNESS, AUTOSOMAL RECESSIVE 36, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, DEAFNESS, AUTOSOMAL DOMINANT 41, FLOATING-HARBOR SYNDROME, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CRANIOSYNOSTOSIS 3, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, CARPENTER SYNDROME, HAY-WELLS SYNDROME, HEIMLER SYNDROME 2, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, PSEUDOHYPOPARATHYROIDISM IA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, VERHEIJ SYNDROME, SEBASTIAN SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 21, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, DEJERINE-SOTTAS DISEASE, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), CATARACT 38, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA-40, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, HOLOPROSENCEPHALY-9, BRACHYDACTYLY, TYPE E2, HYPERFERRITINEMIA-CATARACT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, ?MECKEL SYNDROME 12, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 4, LEUKODYSTROPHY, HYPOMYELINATING, 6, TRIGONOCEPHALY 1, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, MUENKE SYNDROME, OPITZ-KAVEGGIA SYNDROME, TARP SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, D-GLYCERIC ACIDURIA, DEAFNESS, AUTOSOMAL DOMINANT 17, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, BARTTER SYNDROME, TYPE 4B, DIGENIC, ?AL-GAZALI-BAKALINOVA SYNDROME, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, 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, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, RETINITIS PIGMENTOSA 72, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, GALACTOSEMIA, ?DYSTONIA 23, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DYSTONIA-11, MYOCLONIC, MENTAL RETARDATION, X-LINKED 72, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, COENZYME Q10 DEFICIENCY, PRIMARY, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, LEGIUS SYNDROME, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, DYSTONIA 26, MYOCLONIC, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ARTS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, DIAMOND-BLACKFAN ANEMIA 3, BRACHYOLMIA TYPE 3, {OROFACIAL CLEFT 6}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, COLE DISEASE, 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, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, DEAFNESS, AUTOSOMAL RECESSIVE 39, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ?CATARACT 43, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, VAN DER WOUDE SYNDROME, ADULT SYNDROME, BONE MARROW FAILURE SYNDROME 1, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, PERRAULT SYNDROME 4, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, CARNEY COMPLEX, TYPE 1, MELNICK-NEEDLES SYNDROME, OPTIC ATROPHY PLUS SYNDROME, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, PACHYONYCHIA CONGENITA 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, HYPOTRICHOSIS 11, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FUMARASE DEFICIENCY, SENIOR-LOKEN SYNDROME 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, RENAL ADYSPLASIA, CORNEAL DYSTROPHY, CONGENITAL STROMAL, ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, NEUROFIBROMATOSIS, TYPE 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, GRISCELLI SYNDROME, TYPE 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, AICARDI-GOUTIERES SYNDROME 6, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MENTAL RETARDATION, X-LINKED 12/35, ?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}, ?PERRAULT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKOENCEPHALOPATHY WITH ATAXIA, MUSCULAR DYSTROPHY, CONGENITAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, CINCA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, ACHROMATOPSIA-2, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NOONAN SYNDROME 9, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, OCCIPITAL HORN SYNDROME, JOUBERT SYNDROME 5, GALACTOKINASE DEFICIENCY WITH CATARACTS, TOOTH AGENESIS, SELECTIVE, 7, COFFIN-SIRIS SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ARTHROGRYPOSIS, DISTAL, TYPE 8, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, 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, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, SADDAN, OPSISMODYSPLASIA, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MALOUF SYNDROME, HARP SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, OROFACIODIGITAL SYNDROME V, CORNEAL DYSTROPHY, AVELLINO TYPE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, SEGAWA SYNDROME, RECESSIVE, HERMANSKY-PUDLAK SYNDROME 2, HEIMLER SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, JOUBERT SYNDROME 10, NOONAN SYNDROME 8, MENTAL RETARDATION, X-LINKED 30/47, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, QUESTION MARK EARS, ISOLATED, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, RETINITIS PIGMENTOSA 37, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, CLEFT PALATE, ISOLATED, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, KINDLER SYNDROME, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, HYPEROXALURIA, PRIMARY, TYPE 1, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DYSTONIA 25, ALAZAMI SYNDROME, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, DEAFNESS, AUTOSOMAL DOMINANT 64, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, MICROPHTHALMIA, ISOLATED 8, EPSTEIN SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RETINITIS PIGMENTOSA 57, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, ?HYDROLETHALUS SYNDROME 2, CILIARY DYSKINESIA, PRIMARY, 28, NEU-LAXOVA SYNDROME 1, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 9, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, DYSTONIA 16, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, RETINITIS PIGMENTOSA 62, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, MENTAL RETARDATION, X-LINKED 46, TUMOR PREDISPOSITION SYNDROME, CAPOS SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, USHER SYNDROME, TYPE 1B, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PARIETAL FORAMINA 1, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CEROID LIPOFUSCINOSIS, NEURONAL, 11, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, XERODERMA PIGMENTOSUM, GROUP D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 4, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 70, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, BARDET-BIEDL SYNDROME 10, IMMUNODEFICIENCY 15, ?EXUDATIVE VITREORETINOPATHY 6, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, CRANIOFRONTONASAL DYSPLASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MACULAR DYSTROPHY, PATTERNED, 2, ADAMS-OLIVER SYNDROME 3, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, COCKAYNE SYNDROME, TYPE B, CORPUS CALLOSUM AGENESIS, GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLETON-MERTEN SYNDROME 1, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, RETINITIS PIGMENTOSA 2, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, THANATOPHORIC DYSPLASIA, TYPE II, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, 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, ?LICHTENSTEIN-KNORR SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEBER CONGENITAL AMAUROSIS 9, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?BARDET-BIEDL SYNDROME 19, FRONTOMETAPHYSEAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {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, DEAFNESS, X-LINKED 1, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, DEAFNESS, AUTOSOMAL RECESSIVE 68, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLUTAMINE DEFICIENCY, CONGENITAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, DIAMOND-BLACKFAN ANEMIA 9, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, HARTSFIELD SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, SPINOCEREBELLAR ATAXIA 21, FANCONI ANEMIA, COMPLEMENTATION GROUP A, 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, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, HYPOCHONDROPLASIA, RETINITIS PIGMENTOSA 38, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, BARTH SYNDROME, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, RETINITIS PIGMENTOSA 58, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FILS SYNDROME, CHOREOACANTHOCYTOSIS, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OHDO SYNDROME, X-LINKED, ?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, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COMBINED SAP DEFICIENCY, SENIOR-LOKEN SYNDROME 6, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 4B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ACHONDROPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 89, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MEIER-GORLIN SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, MILLER SYNDROME, ?IMMUNODEFICIENCY 37, BURN-MCKEOWN SYNDROME, PARKINSON DISEASE 20, EARLY-ONSET, JALILI SYNDROME, WOLFRAM SYNDROME 2, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, ECTOPIA LENTIS ET PUPILLAE, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, XERODERMA PIGMENTOSUM, GROUP C, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, CONE-ROD DYSTROPHY 18, COENZYME Q10 DEFICIENCY, PRIMARY, 5, IMMUNODEFICIENCY 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, MICROPHTHALMIA, ISOLATED 3, ?CHARGE SYNDROME, CHARGE SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, ?IMMUNODEFICIENCY 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MEDNIK SYNDROME, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SMITH-MCCORT DYSPLASIA 2, NEPHRONOPHTHISIS 15, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SENGERS SYNDROME, SESAME SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, AGAMMAGLOBULINEMIA 3, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, BARDET-BIEDL SYNDROME 2, ?SECKEL SYNDROME 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 3, USHER SYNDROME, TYPE 1C, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, D-2-HYDROXYGLUTARIC ACIDURIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, OROFACIODIGITAL SYNDROME I, MYOTONIA CONGENITA, RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DEAFNESS, AUTOSOMAL RECESSIVE 37, MYOCLONUS, FAMILIAL CORTICAL, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, AICARDI-GOUTIERES SYNDROME 5, STEATOCYSTOMA MULTIPLEX, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, FEINGOLD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), BONE MARROW FAILURE SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PALLISTER-HALL SYNDROME, MASA SYNDROME, CRASH SYNDROME, THROMBOCYTOPENIA 5, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, RETINITIS PIGMENTOSA 60, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ACHROMATOPSIA-3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, STAR SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, TREACHER COLLINS SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MICROPHTHALMIA WITH COLOBOMA 5, BLEEDING DISORDER, PLATELET-TYPE, 20, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, GILLESPIE SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, BARDET-BIEDL SYNDROME 3, SPINOCEREBELLAR ATAXIA 28, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, DEAFNESS, AUTOSOMAL RECESSIVE 23, OPTIC ATROPHY 1, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET, ?DYSTONIA, JUVENILE-ONSET, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, MEIER-GORLIN SYNDROME 2, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, 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, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ENDOCRINE-CEREBROOSTEODYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, CATSHL SYNDROME, URBACH-WIETHE DISEASE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, USHER SYNDROME, TYPE 1F, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, ADAMS-OLIVER SYNDROME 5, CHOROIDEREMIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, JACKSON-WEISS SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, DYSTONIA-12, ARTHROGRYPOSIS, DISTAL, TYPE 2A, HYPER-IGD SYNDROME, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, OSTEOGENESIS IMPERFECTA, TYPE IX, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ACHROMATOPSIA 6, RETINAL CONE DYSTROPHY 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?BARDET-BIEDL SYNDROME 11, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, 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, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, POPLITEAL PTERYGIUM SYNDROME 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, CENTRONUCLEAR MYOPATHY 5, SECKEL SYNDROME 5, AURICULOCONDYLAR SYNDROME 1, JAWAD SYNDROME, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?APLASIA CUTIS CONGENITA, NONSYNDROMIC, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, NEUROFIBROMATOSIS, TYPE 2, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), 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, JOUBERT SYNDROME 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, PERRAULT SYNDROME 5, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, RETINITIS PIGMENTOSA 74, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, PITYRIASIS RUBRA PILARIS, DEAFNESS, AUTOSOMAL RECESSIVE 2, VON WILLIBRAND DISEASE, TYPE 3, PERRAULT SYNDROME 1, WOLCOTT-RALLISON SYNDROME, FOLATE MALABSORPTION, HEREDITARY, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, DIAMOND-BLACKFAN ANEMIA 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, ?RETINITIS PIGMENTOSA 23, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOTONIA CONGENITA, DOMINANT, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 30, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, CONE DYSTROPHY 4, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ATAXIA-OCULOMOTOR APRAXIA 4, 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, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, CODAS SYNDROME, KABUKI SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, SIALURIA, DENT DISEASE 2, ATELOSTEOGENESIS, TYPE III, DEAFNESS, AUTOSOMAL RECESSIVE 70, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TCF12, CA2, TSC2, EZH2, SNRPE, FGFR1, VARS2, MERTK, ACADS, LBR, GNAS, TBXA2R, ATP6V1B1, MYO7A, FTL, KRIT1, RBBP8, TP63, LRRK2, SOX2, PCYT1A, CDC6, MYH14, GLYCTK, GALK1, AKT2, CHD8, KIF7, PTRH2, FH, FAM58A, ARFGEF2, WNK1, KIF1A, ARSE, RPS19, GFI1B, CYB5R3, CREBBP, GNE, MYO18B, MED25, DYNC2H1, STXBP1, NF2, ATRX, SCN4A, TRPV4, KL, NFKB2, APOA1, KCTD17, CNGB3, KIF21A, LONP1, CD79A, SQSTM1, THRA, DAG1, BUB1B, IKBKG, MTOR, ADCY1, CASK, MYO1A, PIK3CD, MARS2, MRE11A, AIFM1, CBL, SMARCE1, CCND1, CEP164, RPL5, SUCLA2, SPEG, UNC45B, MAT1A, TECR, ITPR1, MKKS, HSPD1, ROR2, NOL3, ABCD4, NDUFA1, ARL6, LARS2, ENPP1, TRAPPC9, DUSP6, NDUFA10, SMC3, PDE6C, SEPT9, MLPH, GATA1, TUFM, CAV3, BANF1, TUBG1, PRKRA, CTNNB1, PRPS1, NRAS, SMAD4, MTHFR, DVL3, ETV6, CEP290, TPM2, HDAC6, IARS2, LEP, CTDP1, CTSD, NARS2, PPP2R1A, CISD2, TUBB, GCDH, BBS7, AKT1, RIPK4, INPPL1, AIP, PPIB, UBA1, LRPPRC, STAMBP, UBE3A, CLPB, HOXA11, TRMU, LARP7, STUB1, HGF, KARS, CNGB1, KIF11, RECQL4, DNAH1, IL1B, PDE6G, ACTA2, HSPA9, ORC1, EFNB1, PEX5, XRCC4, XPC, NOD2, NLRP12, PDE4D, ADK, POLA1, CUL4B, EIF2B5, ASNS, FGF23, SLC9A1, HINT1, PINK1, SLC46A1, DIABLO, ERCC6L2, MTPAP, LAMA2, SEC23A, NONO, PCDH15, MSX2, GATA4, RAX, IFT27, RARS, MT-CO2, D2HGDH, AP4M1, ADCY5, RBM28, EGR2, COL4A3, PAK3, MAPRE2, RAB40AL, NLRP5, ERCC6, GRIN2B, TBP, SYNGAP1, KAT6A, POMK, EPS8, ATXN3, ATP7A, DHCR24, FMR1, POLR3B, ATP2A2, TSC1, TAP2, PRKACG, DMPK, HPGD, TUBA8, CTNNA1, PEX14, AGK, TREX1, APOB, QARS, MMP1, MAP2K2, NAA10, VPS11, MFN2, KIF1C, GRN, MOCS2, CACNA1B, COL1A2, NPC1, ALPL, AP4B1, GFAP, PDE11A, NCF4, HARS2, ACY1, REN, UBB, SPG7, ASPM, CDK5RAP2, NPR2, BLNK, NEK8, CDT1, TGFBI, PCNT, S1PR2, POR, BBS2, DLD, SPAST, USH1C, MYH3, NME1, CHD2, NR2E3, AARS2, IL2RG, RPIA, SF3B4, TGFBR2, SOX9, INF2, TGFB2, GNAQ, ABCC6, CLCNKA, ADCY6, GUCY2D, SP7, ACTN1, CARD14, NOTCH1, MYCN, ERCC3, ATP2B3, CBS, CORO1A, EDNRA, PRKAG2, MEF2C, KIF2A, CFL2, BAP1, VCAN, SUCLG1, EXOSC8, KIF5C, GK, RPS24, EARS2, CRYAB, SPRED1, RBM10, VPS33B, PIKFYVE, CDH23, HARS, ETFDH, TAZ, FANCA, RB1, RAB18, CLCNKB, BDNF, STAT3, UPF3B, FANCD2, BRAF, SNAP25, RAB33B, SOS2, ORC4, BBS12, DPH1, UBE2A, DNM1, DNAH8, ADAR, RPS28, DNAJB6, DARS2, SRP72, RIT1, SNIP1, GMPPB, EEF2, NIN, HRAS, PYCR2, SMC1A, GBE1, TXNL4A, VDR, ASCL1, NAGLU, ATXN1, ERBB3, ETFA, CNGA3, EGFR, ITPA, LRP2, IKBKB, ADRA2B, SKI, BSND, ATP2B2, PRKCG, NF1, FARS2, CDKL5, KIF4A, ATP13A2, NME8, TUBB4A, DYNC1H1, DHODH, SCYL1, NDUFV1, PEX1, ISG15, DLG3, DYRK1A, AIMP1, PPP2R5D, PDHX, TBCK, ACTG1, P2RX1, JAGN1, KCNJ10, RORC, ITGB4, PEPD, PRPF6, GATA6, KMT2D, DDX58, EIF2AK3, SPTLC1, STAT1, EXOC8, PARK2, HADHA, PLG, COQ9, BLM, DNMT1, TRIM37, IL6, DCN, ITM2B, OFD1, ADAMTSL4, PHOX2B, POLR1C, APC, FLNB, MED17, ARL13B, SMAD3, BMS1, ALDH18A1, NLRP3, CDH1, RAB28, C10orf2, SKIV2L, ATIC, LMNA, DDX59, CLIC2, F2, TNFRSF1A, PAFAH1B1, PRPF31, IGBP1, SALL1, RAD21, CRYM, IFIH1, CDK6, CENPF, PEX6, EFTUD2, CARS2, ATP6V1B2, AGT, VPS53, GNAI3, ZNF408, CDK5, TRAPPC2, KDM1A, SNCA, ESPN, GALT, DNAH5, RBMX, WNT5A, EIF4A3, SOS1, NADK2, IGHMBP2, STK11, AR, MYO3A, LIPE, NDRG1, CDKN1C, PDE6D, PPP1R15B, COL1A1, FANCM, NOP56, PIK3CA, PTPN11, ABCD1, ACSL4, SPAG1, POLD1, GFPT1, MTO1, ABCB6, ECM1, SLFN14, RBPJ, MYH2, NUBPL, ACTA1, TUBA1A, ACTB, GRIP1, SMARCA4, RUNX1, TUBB2B, LZTR1, DRD2, PNPO, IGF2, NEK2, PIK3R2, PARN, DCLRE1C, KCNJ1, MAPT, FANCC, GATA2, CHM, ACVRL1, ATP1A2, NTRK1, GNAT1, HNRNPK, GFM1, ABCA1, CEP152, PLOD1, DGUOK, DCX, PLOD3, PSMB8, APTX, MET, NFKBIA, CNNM4, ICK, IRF8, DNM1L, EEF1A2, NDUFS2, RUNX2, DPYD, GTPBP3, TMEM173, GSC, POLR1D, PDE6H, RPS6KA3, ACVR1, VCP, USH2A, INS, MOCS1, DIS3L2, YARS2, DKC1, KIF14, HSD17B10, SDHD, PITX3, PAX2, LMX1B, HLA-DRB1, FLNA, SYN1, CNTN1, TXN2, VHL, BCS1L, RAPSN, SIK1, KIF1B, RDX, CLCN1, BRCA1, ITGB2, PTHLH, PHC1, CNNM2, PSAP, ITPR2, TUBGCP6, TAF6, SALL2, MT-CYB, ATP5A1, ALDH1A3, PHGDH, DCTN1, PTS, DNA2, RPS10, HNRNPDL, EDN1, RHO, TMEM165, TERT, TTN, ACADSB, PTEN, PNKP, FGFR3, TNNT2, TK2, VPS13A, SSR4, THOC2, ATXN2, SMARCB1, CD40LG, PDSS2, MYH7, KRT17, EIF2B1, PUF60, BCL10, SDHA, CENPE, PANK2, PRPF4, MYH9, AP3B1, TGFB1, ERCC4, DMD, WAS, NEK1, SAMHD1, TCF4, TAF2, POLE, PDE10A, CLIC5, PDE6B, ABCA4, ABCC9, GNAL, ACD, STRADA, UCHL1, GUCA1A, CDON, F10, POLG, OCLN, HTRA1, SPTAN1, IRF6, TINF2, DHFR, PTPRF, PCLO, PDGFB, SRCAP, BRCA2, TRNT1, CAV1, POLR1A, PRPF8, TTBK2, CNBP, ACOX1, PRKACA, PABPN1, PIGT, DNM2, TAP1, SEMA3A, ITGB3, RNASEH1, KIF22, MYO5A, PPARG, AGTR1, AGL, PRKAR1A, SYNJ1, EIF2B2, PGK1, DDR2, BTK, CDKN2A, IBA57, AARS, CLASP1, NEU1, TRIM32, SCN8A, DARS, BMP4, AFG3L2, ERCC2, PDGFRB, ARHGDIA, OCRL, MATR3, DDX3X, WNT7A, APOA2, STT3A, KRAS, TP53, GLI2, PAX6, CAPN3, TNC, WRN, OAT, GLUL, LMNB1, LRP1, COQ6, TARDBP, LHX3, AGXT, HELLS, MECOM, MEGF10, DDX11, CLCN7, MRPL44, RPL11, IFNG, NSUN2, TSFM, HTT, RELN, DVL1, PDGFRA, TGFBR1, EP300, TAF1, AP1S1, CLP1, ARHGEF6, NBN, RTEL1, MYO6, ZBTB16, IGF1, NLRP1, ABCA5, PCNA, FERMT1, IQCB1, SEC23B, SPATA5, ABCC8, LRP6, PCK1, PLIN1, LARS, TTR, UNC119, KCNJ11, RAB39B, CLCN2, GJA1, SMARCA2, INPP5E, SNRPB, SPR, VWF, PEX19, MECP2, MVK, ZNF513, CHD7, P2RX2, GCK, SMARCAL1, MAK, BBS10, TH, CCND2, GALE, HADHB, PRKDC, NDUFS1, PLK4, IGF1R, RBM8A, MED12, ATP1A3, SLC25A4, MPDZ, ABCA12, TOR1A, SETX, MCM4, RP2, ITCH, ATP7B, DNMT3B, SIL1, SEMA3E, TUBB3, MUSK, CHRM3, DDOST, TPI1, PNPT1, PAH, NMNAT1, SUMF1, NHP2, GLE1, ACE, PDK3, YAP1, DNAJC13, BIN1, RAB23, HSD17B4, NGF, HPCA, PDHA1, ENTPD1, ATM, QDPR, ETFB, SGCE, IKBKAP, POLR3A, INSR, STAP1, AKT3, PITX2, FGFR2, GLUD2, HOXA2, GCH1, MYH8, L1CAM, OPA1, RET, SPTBN2, HACE1, RARS2, DNAJC3, COL4A3BP, MYH11, ATR, CHKB, PIK3R1, MTRR, SHH

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ?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, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, LUJAN-FRYNS SYNDROME, MEIER-GORLIN SYNDROME 2, HERMANSKY-PUDLAK SYNDROME 1, JOUBERT SYNDROME 4, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, DYSTONIA-11, MYOCLONIC, CARASIL SYNDROME, {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}, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, HOLOPROSENCEPHALY-9, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CEROID LIPOFUSCINOSIS, NEURONAL, 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CATSHL SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CORNEA PLANA CONGENITA, RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 11, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, OCCIPITAL HORN SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, LOEYS-DIETZ SYNDROME 3, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, DEAFNESS, AUTOSOMAL RECESSIVE 36, COENZYME Q10 DEFICIENCY, PRIMARY, 1, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CRANIOSYNOSTOSIS 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, LONG QT SYNDROME 1, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, POPLITEAL PTERYGIUM SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SEBASTIAN SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, CULLER-JONES SYNDROME, PELGER-HUET ANOMALY, LUSCAN-LUMISH SYNDROME, RETINITIS PIGMENTOSA 59, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?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, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, RETINITIS PIGMENTOSA 2, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, TRIGONOCEPHALY 1, CILIARY DYSKINESIA, PRIMARY, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, MUENKE SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NICOLAIDES-BARAITSER SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ?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, ?SPINOCEREBELLAR ATAXIA 34, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE III, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, 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, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, GALACTOSEMIA, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, MUCOLIPIDOSIS III ALPHA/BETA, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GABA-TRANSAMINASE DEFICIENCY, ODONTOONYCHODERMAL DYSPLASIA, ?MICROHYDRANENCEPHALY, NORUM DISEASE, MENKES DISEASE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, ACROMICRIC DYSPLASIA, COENZYME Q10 DEFICIENCY, PRIMARY, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, HAY-WELLS SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, VAN DER WOUDE SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, DYSTONIA 26, MYOCLONIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, DEAFNESS, AUTOSOMAL DOMINANT 13, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, KAUFMAN OCULOCEREBROFACIAL SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, ?SECKEL SYNDROME 8, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, DIAMOND-BLACKFAN ANEMIA 3, TENORIO SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, {OROFACIAL CLEFT 6}, WEILL-MARCHESANI SYNDROME 2, DOMINANT, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP C, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 5, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ARTS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ADULT SYNDROME, BONE MARROW FAILURE SYNDROME 1, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, 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, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, COLE-CARPENTER SYNDROME 1, HOLOPROSENCEPHALY-7, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CONGENITAL DISORDER OF DEGLYCOSYLATION, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MEIER-GORLIN SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FUMARASE DEFICIENCY, MUCOLIPIDOSIS II ALPHA/BETA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, CORNEAL DYSTROPHY, CONGENITAL STROMAL, KABUKI SYNDROME 2, NEU-LAXOVA SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, OGDEN SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?PERRAULT SYNDROME 2, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, MYOCLONUS, FAMILIAL CORTICAL, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, DEAFNESS, AUTOSOMAL RECESSIVE 63, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, TOOTH AGENESIS, SELECTIVE, 4, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, CINCA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ALAGILLE SYNDROME, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, GALACTOKINASE DEFICIENCY WITH CATARACTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, COFFIN-SIRIS SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, ARTHROGRYPOSIS, DISTAL, TYPE 8, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, 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, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, 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, CORNEAL DYSTROPHY, AVELLINO TYPE, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MENTAL RETARDATION, X-LINKED 98, RIDDLE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, JOUBERT SYNDROME 10, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MEDNIK SYNDROME, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, RETINITIS PIGMENTOSA 37, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, CLEFT PALATE, ISOLATED, SPINOCEREBELLAR ATAXIA 1, TREACHER COLLINS SYNDROME 3, MUSCULAR DYSTROPHY, CONGENITAL, JACKSON-WEISS SYNDROME, MEVALONIC ACIDURIA, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, COMMON VARIABLE IMMUNODEFICIENCY 1, SPINOCEREBELLAR ATAXIA 35, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, KINDLER SYNDROME, NOONAN SYNDROME 10, GM1-GANGLIOSIDOSIS, TYPE I, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, BRITTLE CORNEA SYNDROME 2, SPONDYLOPERIPHERAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, DEAFNESS, AUTOSOMAL DOMINANT 64, DESBUQUOIS DYSPLASIA 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, EPSTEIN SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PARIETAL FORAMINA 1, TUBEROUS SCLEROSIS-1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CORNEAL FLECK DYSTROPHY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, 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, SPINOCEREBELLAR ATAXIA 38, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CEROID LIPOFUSCINOSIS, NEURONAL, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, ADAMS-OLIVER SYNDROME 4, RETINITIS PIGMENTOSA 11, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, DYSTONIA 16, HYPOBETALIPOPROTEINEMIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, RETINITIS PIGMENTOSA 62, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, TUMOR PREDISPOSITION SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, GAUCHER DISEASE, TYPE III, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CEROID LIPOFUSCINOSIS, NEURONAL, 11, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, RETINITIS PIGMENTOSA 70, WARBURG MICRO SYNDROME 3, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, CRANIOFRONTONASAL DYSPLASIA, MACULAR DYSTROPHY, PATTERNED, 2, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?OPTIC ATROPHY 9, PERRAULT SYNDROME 5, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HAJDU-CHENEY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, 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, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEJERINE-SOTTAS DISEASE, LEBER CONGENITAL AMAUROSIS 9, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, AORTIC ANEURYSM, FAMILIAL THORACIC 9, LOEYS-DIETZ SYNDROME 5, ?MENTAL RETARDATION, X-LINKED 91, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SENIOR-LOKEN SYNDROME 5, {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, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MENTAL RETARDATION, X-LINKED 9, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, JOHANSON-BLIZZARD SYNDROME, TEMPLE-BARAITSER SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCEREBELLAR ATAXIA 21, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, USHER SYNDROME, TYPE 1G, ALPORT SYNDROME, AUTOSOMAL DOMINANT, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, RETINITIS PIGMENTOSA 38, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, AICARDI-GOUTIERES SYNDROME 6, BARTH SYNDROME, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, YUNIS-VARON SYNDROME, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MICROPHTHALMIA, SYNDROMIC 12, OHDO SYNDROME, X-LINKED, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ATELOSTEOGENESIS, TYPE I, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COMBINED SAP DEFICIENCY, ?SECKEL SYNDROME 6, LIMB-MAMMARY SYNDROME, SCHAAF-YANG SYNDROME, 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, CHOROID PLEXUS PAPILLOMA, PAPILLORENAL SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, ROBERTS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, ?IMMUNODEFICIENCY 37, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ECTOPIA LENTIS ET PUPILLAE, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, XERODERMA PIGMENTOSUM, GROUP C, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, DEAFNESS, AUTOSOMAL DOMINANT 20/26, BALLER-GEROLD SYNDROME, IMMUNODEFICIENCY 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, MICROPHTHALMIA, ISOLATED 3, ?CHARGE SYNDROME, CHARGE SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, POLYGLUCOSAN BODY DISEASE, ADULT FORM, TREACHER COLLINS SYNDROME 2, COENZYME Q10 DEFICIENCY, PRIMARY, 2, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, FISH-EYE DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, D-GLYCERIC ACIDURIA, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, LOEYS-DIETZ SYNDROME 1, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, 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, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, NEUROFIBROMATOSIS, TYPE 1, SMED STRUDWICK TYPE, STICKLER SYNDROME, TYPE I, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 37, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 4, AICARDI-GOUTIERES SYNDROME 5, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, LADD SYNDROME, FEINGOLD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), APERT SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, WAARDENBURG SYNDROME, TYPE 2D, MASA SYNDROME, CRASH SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, THROMBOCYTOPENIA 5, LEUKODYSTROPHY, HYPOMYELINATING, 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, FRASER SYNDROME, 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, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MICROPHTHALMIA WITH COLOBOMA 5, GAUCHER DISEASE, TYPE I, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, 3-M SYNDROME 1, 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, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, ?CATARACT 45, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PETERS-PLUS SYNDROME, BURN-MCKEOWN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, STARGARDT DISEASE 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, DEAFNESS, AUTOSOMAL RECESSIVE 23, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CATARACT 38, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, RETINITIS PIGMENTOSA 60, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, 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, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 36, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, URBACH-WIETHE DISEASE, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, USHER SYNDROME, TYPE 1F, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, BLEEDING DISORDER, PLATELET-TYPE, 15, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, CHOROIDEREMIA, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 70, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, TIETZ ALBINISM-DEAFNESS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), GLYCOGEN STORAGE DISEASE IA, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 53, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, OSTEOGENESIS IMPERFECTA, TYPE IX, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, BAMFORTH-LAZARUS SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SCHOPF-SCHULZ-PASSARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CORNELIA DE LANGE SYNDROME 4, SENIOR-LOKEN SYNDROME-1, IMMUNODEFICIENCY 33, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, 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, CHANARIN-DORFMAN SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, CENTRONUCLEAR MYOPATHY 5, SECKEL SYNDROME 5, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RAINE SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, JERVELL AND LANGE-NIELSEN SYNDROME 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MACROCEPHALY/AUTISM SYNDROME, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, NEUROFIBROMATOSIS, TYPE 2, GENITOPATELLAR 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), FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ECTOPIA LENTIS, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, DARIER DISEASE, SECKEL SYNDROME 9, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MYOPIA 22, AUTOSOMAL DOMINANT, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, WAGNER SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, WILSON-TURNER SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, WOLCOTT-RALLISON SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ?RETINITIS PIGMENTOSA 23, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, 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, LEUKOCYTE ADHESION DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 30, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 8, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MOLYBDENUM COFACTOR DEFICIENCY B, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, KABUKI SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 7, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 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, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME

TCF12, APOE, EZH2, PLOD3, CLN3, VARS2, TSC2, NGLY1, GPT2, CD3E, LBR, WNT5A, CNGB1, COL3A1, ATP6V1B1, FTL, PRIMPOL, TP63, EOGT, LRRK2, ALG3, PCYT1A, CDC6, ZNF423, GLYCTK, GALK1, AKT2, ENG, EGR2, SMAD4, IL1B, FH, MERTK, G6PC, POMGNT1, FZD4, NCF4, ASPM, RPS19, GFI1B, TGFBR2, PIGW, CREBBP, GNE, GTPBP3, MED25, TRMT5, PTEN, NF2, FGFR3, KL, NFKB2, APOA1, KCTD17, AR, P4HB, SQSTM1, DNMT3A, THRA, HS6ST1, DAG1, BUB1B, CENPF, ABAT, NOD2, KCNJ10, MGAT2, ALG11, PIK3CD, GRIN2B, IFNG, MRE11A, AIFM1, CBL, SMARCE1, CCND1, TALDO1, RPL5, SUCLA2, SPEG, MAT1A, TECR, ITPR1, GALNT3, UBR1, HSPD1, ROR2, NOL3, KRIT1, TNNT2, NAT8L, DUSP6, FOXE1, SMC3, MT-CO1, GATA1, TUFM, CAV3, BANF1, TUBG1, ALDOA, PRKRA, CTNNB1, PRPS1, SERPINC1, SUFU, XYLT2, SETD2, GNPTAB, DVL3, CHST14, CEP63, CD40LG, HDAC6, LEP, CTDP1, PITX2, FGF23, PPP2R1A, TUBB, AKT1, RIPK4, INPPL1, AIP, PPIB, UBA1, SIPA1L3, GCNT2, UBE3A, CLPB, TRMU, COX15, HNRNPK, HGF, TWIST1, KIF11, RECQL4, B4GAT1, LRAT, ACTA2, HSPA9, ORC1, EFNB1, CLDN1, XRCC4, MUSK, XPC, KIAA2022, NPR2, KDM6A, ADK, POLA1, CHST3, CUL4B, DPM1, LRP5, TNFRSF11A, SLC9A1, HINT1, PINK1, DIABLO, EIF2B5, MTPAP, NPHP1, SEC23A, PIK3R2, PCDH15, MSX2, GMPPA, RAX, DMPK, SPRY4, TSR2, MT-CO2, PDSS1, SRCAP, WNT10A, RBM28, LCAT, FTSJ1, FKTN, FKRP, ESCO2, PAK3, GATA4, ZMPSTE24, BDNF, KERA, B4GALT7, PRPF4, CHAT, POMK, FANCL, EGFR, ATXN3, ATP7A, DHCR24, POLR3B, PDSS2, TERT, ALB, TSC1, PRDM5, PEX5, SKI, CTNNA1, PEX14, AGK, ARHGDIA, APOB, TRAIP, MMP1, HIBCH, NAA10, NHLRC1, MFN2, GRN, MOCS2, ACTN1, DGUOK, ALPL, B3GLCT, COL11A2, PTDSS1, WNK1, TGM6, HARS2, ITGA2B, MYOC, HCFC1, KMT2A, HMGB3, COL4A5, SPTAN1, NEK8, DES, CDT1, TGFBI, SOS1, DLD, MITF, ADAR, NRAS, NR2E3, POMGNT2, CUL7, SF3B4, FIG4, SOX9, TGFB2, NDE1, HOXB1, MAP2K2, TFAP2A, NME1, NOTCH1, MYCN, ERCC3, COL4A3, TTC37, CORO1A, FGFR1, PRKACG, MEF2C, POLG, KIF2A, CFL2, VCAN, SUCLG1, EXOSC8, KIF5C, GK, RPS24, EARS2, CRYAB, SCP2, KLC2, PIKFYVE, KAT6B, GPX4, SYT2, HARS, RBPJ, TAZ, FANCA, RB1, RAB18, RARB, STAT3, NUBPL, BRAF, KAT6A, DMD, PIGA, ORC4, DLAT, DPH1, GNPTG, UBE2A, BLNK, IGF1, ALG1, SRP72, HNMT, SNIP1, MRPS16, GMPPB, EEF2, NDUFS4, UBE3B, B4GALNT1, F10, NDN, SMC1A, RSPO1, TXNL4A, VDR, ASCL1, DVL1, ATXN1, AXIN2, ETFA, EPS8, LRP2, IKBKB, CLIC2, SNCA, PRKCG, NF1, FARS2, LZTR1, KCNH1, NME8, HRAS, SCYL1, AGPAT2, USH2A, ISG15, DLG3, DYRK1A, MTFMT, PTS, PDHX, TBCK, ACTG1, ATP2A2, JAGN1, B3GAT3, TGFB1, PEPD, PRPF6, CYP1B1, KMT2D, IGF1R, EIF2AK3, SPTLC1, PARK2, PLG, TP53, BLM, DNMT1, GBE1, TRIM37, IL6, DCN, OFD1, PTHLH, INPP5E, ADAMTSL4, NEFL, POLR1C, APC, FLNB, PMPCA, PTPRF, TIMP3, SMAD3, ALDH18A1, HSPG2, NLRP3, DDX58, C10orf2, MTOR, ATIC, ERBB3, LMNA, F2, PAFAH1B1, B3GALNT2, PRPF31, RAD21, CDK6, IKBKG, CTSA, EFTUD2, CAV1, AGT, TAF6, CDK5, NOTCH3, KDM1A, PSAT1, ESPN, CDH1, IRX5, EIF4A3, NADK2, STK11, MYO3A, LIPE, CDKN1C, PDE6D, SEPSECS, PNPLA2, COL1A1, FANCM, NOP56, PIK3CA, PTPN11, LTBP4, ST3GAL5, JAG1, HADHA, CPT2, ECM1, GFPT1, GATA3, COL2A1, BAP1, ZDHHC15, FANCD2, ACTA1, DNM1, ACTB, GRIP1, SMARCA4, RUNX1, STT3A, NDUFAF6, CDKL5, DRD2, GPC3, IGF2, NEK2, NOTCH2, NR1I3, MAPT, GATA2, CHM, NTRK1, GALT, TK2, ABCA1, CEP152, DCX, HGSNAT, SNCAIP, MET, NFKBIA, ICK, IRF8, MCPH1, EEF1A2, FKBP14, TMEM173, LRTOMT, TSHR, ALG6, POLR1D, RPS6KA3, ACVR1, INS, CDON, GFAP, COL7A1, FAM20C, ITGB3, DKC1, SGCE, HSD17B10, SDHD, MKKS, PAX2, LMX1B, STAT1, YAP1, SYN1, CNTN1, TXN2, VHL, BCS1L, SLC35A2, SIK1, KIF1B, TNFRSF1A, BRCA1, ITGB2, STT3B, TUBB3, PSAP, ITPR2, SMS, METTL23, AIMP1, PDK3, TUBGCP4, ATP5A1, HCCS, DNA2, POLD1, ACY1, RHO, SYNGAP1, DPM2, TTN, ACADSB, STXBP1, PNKP, F13A1, POLG2, SOX10, EHMT1, GDF2, GSC, LIAS, KCNQ1, SMARCB1, HDAC8, MYH7, STUB1, DHCR7, STAMBP, EIF2B1, WNT3, DNM2, BCL10, KMT2C, CENPE, PANK2, TNFAIP3, TBP, MYH9, FGF10, XYLT1, WAS, NEK1, SAMHD1, IGBP1, TYMP, TAF2, POLE, RBCK1, HERC2, CLIC5, NDUFA10, GBA, FASTKD2, DTNBP1, ACD, STRADA, PIGV, RIT1, MFAP5, COQ6, MTAP, MTR, NDUFAF5, OCLN, HTRA1, BAG3, IRF6, TINF2, ISPD, ALG13, CASK, PDGFB, BRCA2, TRNT1, TPP1, POLR1A, PRPF8, MAN1B1, TTBK2, CNBP, PRKACA, RAG1, PIGT, ERCC1, ALG2, SEMA3A, DDX3X, NBN, MYO5A, PPARG, AGTR1, AGL, PRKAR1A, EIF2B2, PGK1, DDR2, BTK, CDKN2A, IBA57, CLASP1, NEU1, TGM1, TRIM32, SERPINH1, BMP4, SNAI2, PDGFRB, PIGO, EMD, ABHD5, DNMT3B, FBXO7, PTCH1, WNT7A, CHD7, KRAS, GLI2, PAX6, WRN, OAT, ETV6, GCH1, LMNB1, AIPL1, LRP1, TPM3, TRMT10A, LHX3, SPRED1, AGXT, DHDDS, IKBKAP, MRPL44, UCHL1, RPL11, AGRN, NSUN2, ELOVL4, HTT, RELN, FMR1, PDGFRA, TGFBR1, EP300, TAF1, AP1S1, CLP1, MYO6, UBB, POMT2, ZBTB16, GNPAT, PCNA, FERMT1, IQCB1, SEC23B, LRP6, RORC, PLIN1, EDN1, TTR, DPAGT1, PRDM12, GJA1, SMARCA2, MYH3, WDR81, NUP62, MECP2, MVK, TGFB3, GCK, HES7, MAK, PYCR2, VPS35, TH, CCND2, ICOS, GALE, HADHB, PRKDC, NDUFS1, PLK4, VCP, MED12, ACO2, PHOX2B, SLC25A4, MPDZ, TUBA1A, POMT1, CHSY1, MAGEL2, RP2, ITCH, DNAJC3, PIGN, B3GALT6, ACVRL1, DDOST, TPI1, PNPT1, SKIV2L, RUNX2, NMNAT1, SUMF1, GLE1, GUCY2D, FLNA, BIN1, COQ2, GJB2, RNF168, HSD17B4, NGF, HPCA, PDHA1, ATM, GLB1, LRPPRC, BRF1, NSD1, EXT2, POLR3A, INSR, AKT3, EIF2B3, FGFR2, PACS1, HOXA2, FANCC, L1CAM, ELOVL5, FBN1, RET, PEX19, PNP, HACE1, DOLK, AMPD2, RNF125, COL4A3BP, MYH11, ATR, CHKB, PIK3R1, COX10, PORCN, SHH