SKELETAL

OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {PSORIASIS SUSCEPTIBILITY 1}, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, BARAITSER-WINTER SYNDROME 1, FACTOR X DEFICIENCY, CAFFEY DISEASE, CAMURATI-ENGELMANN DISEASE, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, C1R/C1S DEFICIENCY, COMBINED, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CORNELIA DE LANGE SYNDROME 4, VON WILLIBRAND DISEASE, TYPE 3, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MICROPHTHALMIA, SYNDROMIC 6, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?DYSTONIA, JUVENILE-ONSET, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COMPLEMENT FACTOR I DEFICIENCY, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, 3MC SYNDROME 1, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HEMOPHILIA A, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CARASIL SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BRACHYDACTYLY, TYPE A2, EXUDATIVE VITREORETINOPATHY 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CODAS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, RENAL TUBULAR DYSGENESIS, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HAIM-MUNK SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

VLDLR, NME1, F2, MYH11, NGF, CDK5, HSPB1, PPIB, COL1A1, HSD17B10, RAD21, F7, ACTB, IGF2, TGFB1, VWF, COL1A2, C1R, CREBBP, TGFB3, AGT, MTOR, F8, BMP2, F10, GGCX, ALB, AKT1, TP53, CBL, LONP1, MMP1, CTSC, CFI, MASP1, IFNG, BMP4, GPX4, TRH, PRSS23, NEU1, DES, CTNS, APC, HTRA1, FKBP14, HLA-C, ADA, RUNX2, RB1, F13A1, IGF1, HAMP, HSPG2, STAT3, HLA-DQA1, INS, HFE, MMP2

BARAITSER-WINTER SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, BARAITSER-WINTER SYNDROME 2, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, METATROPIC DYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 1, CORNELIA DE LANGE SYNDROME 3, LEOPARD SYNDROME 3, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, AURICULOCONDYLAR SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, IMMUNODEFICIENCY 43, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?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, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?MARDEN-WALKER SYNDROME, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, TEMPLE-BARAITSER SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MYOPATHY, TUBULAR AGGREGATE, 2, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, KEPPEN-LUBINSKY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EMBERGER SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, TIMOTHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, OTOPALATODIGITAL SYNDROME, TYPE I, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED 21/34, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OLMSTED SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ANDERSEN SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, TUBEROUS SCLEROSIS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PARASTREMMATIC DWARFISM, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MYASTHENIC SYNDROME, CONGENITAL, 16, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?DYSTONIA 23, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CHERUBISM, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ESCOBAR SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SED, MAROTEAUX TYPE, HYPOPHOSPHATASIA, CHILDHOOD, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PAGET DISEASE OF BONE 3, 3MC SYNDROME 1, NOONAN SYNDROME 7, OSTEOLYSIS, FAMILIAL EXPANSILE, METACHONDROMATOSIS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

TSC2, CYBA, PDE4D, CHRNG, ACTB, NALCN, SQSTM1, ALPL, AGT, KCNJ6, CDK5, EDN1, B2M, PIEZO2, KCNA1, RAB7A, GATA2, CACNA1B, EFEMP2, CDC73, CREBBP, ANO10, TRPV3, IL1RAPL1, VLDLR, SCN4A, KRAS, SLC9A3R1, DAG1, RYR1, SH3BP2, ORAI1, KCNJ1, IFNG, NCF2, HSPD1, SNAP25, TNFRSF11A, STAT3, BRAF, INS, ABCC8, SMC3, CTSD, CAV3, STIM1, KCNJ11, GJA1, IGF1, CHRNB1, CNTN1, DMD, KCNJ5, CHRNA1, AKT1, SCN11A, VCP, PRKCD, SEC63, PIEZO1, PTEN, TRPV4, MUSK, KCNH1, CHRM3, CHRND, FLNA, CHRNE, NGF, MASP1, ACTG1, TGFB1, PTPN11, SPTLC1, PRKACA, CACNA1C, SCN9A, HERC2, ABCC9, L1CAM, PCNA, GRM1, KCNJ2, PAM16, HRAS, LRP2, ITGA7, SMAD3, ADCY6, ALB, CASK, PIK3R1

EMBERGER SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPER-IGE RECURRENT INFECTION SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LIEBENBERG SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ADAMS-OLIVER SYNDROME 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, DEJERINE-SOTTAS DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HOLT-ORAM SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, RUBINSTEIN-TAYBI SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

GATA1, SMARCA4, STAT1, TBX3, GATA2, PITX1, POU1F1, HNF4A, TBX5, EGR2, TP53, EP300, TBX6, BMP4, T, RB1, SMAD3, CREBBP, ESR1, INS, STAT3, RBPJ

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, CZECH DYSPLASIA, CAFFEY DISEASE, CAMURATI-ENGELMANN DISEASE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, KOSAKI OVERGROWTH SYNDROME, {OSTEOARTHRITIS SUSCEPTIBILITY 3}, VON WILLIBRAND DISEASE, TYPE 3, {PSORIASIS SUSCEPTIBILITY 1}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, 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, EHLERS-DANLOS SYNDROME, TYPE 3, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, KNOBLOCH SYNDROME 1, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, STICKLER SYNDROME, TYPE I, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, VESICOURETERAL REFLUX 8, OSTEOGENESIS IMPERFECTA, TYPE XIII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE IV, HYPOPHOSPHATEMIC RICKETS, AR, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PSEUDOACHONDROPLASIA, PYCNODYSOSTOSIS, LEGG-CALVE-PERTHES DISEASE, BETHLEM MYOPATHY 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOGENESIS IMPERFECTA, TYPE XVII, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, RENAL TUBULAR DYSGENESIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

CCBE1, ACAN, MYH11, BMP1, TP53, COL1A1, VWF, FBLN1, CTSK, LAMA2, TGFB1, FLNA, COL1A2, COL17A1, F2, AGT, ANTXR1, BMP2, HRAS, COL6A1, SERPINH1, COMP, B2M, MMP13, IFNG, ITGA3, BMP4, SPARC, DMP1, COL18A1, ASPN, HLA-C, PDGFRB, SMAD3, SMAD4, HSPG2, STAT3, DDR2, PIK3R1, COL2A1, INS, MMP1, TNXB, COL7A1

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, CARASIL SYNDROME, DYSAUTONOMIA, FAMILIAL, HYPER-IGE RECURRENT INFECTION SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LARON DWARFISM, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANGELMAN SYNDROME, EXUDATIVE VITREORETINOPATHY 1, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, NEUROFIBROMATOSIS, TYPE 1, BRACHYDACTYLY, TYPE A1, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, KLEEFSTRA SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, BRACHYDACTYLY, TYPE E2, ?WEBB-DATTANI SYNDROME, TARSAL-CARPAL COALITION SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, BRACHYDACTYLY, TYPE E, COWDEN SYNDROME 7, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?SECKEL SYNDROME 4, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FRAGILE X SYNDROME, GALACTOSIALIDOSIS, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, IMAGE SYNDROME, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, DESBUQUOIS DYSPLASIA 1, CRANIOSYNOSTOSIS, TYPE 2, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, METACHONDROMATOSIS, HAY-WELLS SYNDROME, SED, MAROTEAUX TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, OSTEOGENESIS IMPERFECTA, TYPE XV, CURRARINO SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MARFAN LIPODYSTROPHY SYNDROME, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ADULT SYNDROME, ATELOSTEOGENESIS, TYPE I, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WEAVER SYNDROME, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, PYCNODYSOSTOSIS, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, ?BARDET-BIEDL SYNDROME 11, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHPRINTZEN-GOLDBERG SYNDROME, HEMOCHROMATOSIS, TYPE 2A, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, DYSKERATOSIS CONGENITA, X-LINKED, PARASTREMMATIC DWARFISM, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SYMPHALANGISM, PROXIMAL, 1A, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, CLEFT PALATE, ISOLATED, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?OSTEOGENESIS IMPERFECTA, TYPE XII, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, SPONDYLOPERIPHERAL DYSPLASIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MECKEL SYNDROME 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, HYPOCHONDROPLASIA, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ESCOBAR SYNDROME, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, 3MC SYNDROME 1, AVASCULAR NECROSIS OF THE FEMORAL HEAD, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, HYPEREKPLEXIA HEREDITARY, BRACHYDACTYLY, TYPE B1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PARIETAL FORAMINA 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEOPARD SYNDROME 1, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, METATROPIC DYSPLASIA, DEJERINE-SOTTAS DISEASE, SECKEL SYNDROME 9, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, SADDAN, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SPLIT-HAND/FOOT MALFORMATION 6, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MECKEL SYNDROME 10, DIAMOND-BLACKFAN ANEMIA 6, PHELAN-MCDERMID SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, TEMPLE-BARAITSER SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 5, DUANE-RADIAL RAY SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, AURICULOCONDYLAR SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 2, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, [BONE MINERAL DENSITY VARIABILITY 1], BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, 46,XX SEX REVERSAL, TYPE 2, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, LADD SYNDROME, PALLISTER-HALL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, IMMUNODEFICIENCY 12, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, COLE-CARPENTER SYNDROME 1, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, AGAMMAGLOBULINEMIA, X-LINKED 1, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ULNAR-MAMMARY SYNDROME, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIGITAL CLUBBING, ISOLATED CONGENITAL, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?MECKEL SYNDROME 9, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JACKSON-WEISS SYNDROME, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, TUBEROUS SCLEROSIS 2, SYNDACTYLY, TYPE V, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XIII, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, VOHWINKEL SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, EHLERS-DANLOS SYNDROME, TYPE IV, MYOPATHY, MYOFIBRILLAR, 6, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, EIKEN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MECKEL SYNDROME 4, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, KABUKI SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME

CA2, EDNRA, GNAS, CIITA, COL3A1, RPL5, FTL, UBA1, CDC6, B2M, NOG, EGR2, TRIM32, WNK1, TYROBP, TGFBR2, CREBBP, MAFB, VLDLR, TRPV4, KL, ERBB3, FSHR, HAMP, IRF5, P4HB, THRA, DAG1, IKBKG, MTOR, CBL, SMARCE1, NR1I3, TNNT1, AP1S2, HSPD1, ROR2, T, TP63, DNMT3A, SMC3, GATA1, TAPT1, DDR2, SERPINC1, SUFU, SMAD4, DVL3, CEP290, YARS, LRP5, CTSD, TUBB, AKT1, AIP, EZH2, GLI3, EFNB1, PEX5, IL1RN, CALCR, NOD2, TNFSF11, TNFRSF11A, MASP1, HNRNPK, PIK3R2, AP4M1, SPG7, STAT3, ENG, HLA-B, PTPN11, HLA-DQB1, HLA-C, ARID1A, PIGR, ACE, SIGMAR1, HPGD, FSHB, DNM2, WNT5A, TRAIP, MMP1, ACTB, SEMA3E, COL1A2, ASCC1, ITGA8, UBB, NPR2, ROBO3, DLL4, CAPN3, GNAI2, SF3B4, SOX9, TGFB2, MMP2, MAP2K2, ADCY6, NME1, SP7, NOTCH1, MYCN, IL11RA, FGFR1, FZD4, MSX2, B9D2, PTH1R, VPS33B, RB1, RAB18, GPHN, BRAF, MALT1, NCF1, ALPL, BMP1, IGF1, GHR, KLC2, BMP2, F10, TNFRSF11B, VDR, DVL1, KARS, LRP2, ARL6IP1, PSTPIP1, GLI2, KCNH1, MAF, ANTXR1, ITGA6, KIT, CENPJ, CHRNE, SLC12A6, PAX3, ACTG1, ALB, PRKCSH, NTRK1, KMT2D, DDX58, EIF2AK3, SPTLC1, TP53, BLM, DNMT1, FCGR2B, CRYAB, PCNA, FLNB, TMEM67, ADA, SMAD3, HSPG2, ESR1, WNT10B, PLCB4, PDE4D, F2, SALL1, RAD21, SQSTM1, CENPF, CTSA, AGT, GNAI3, CDK5, FLRT3, KDM1A, KMT2A, FRZB, IL10, FMR1, SALL4, COL10A1, PLEKHG5, PIK3CA, LTBP4, HNRNPA1, GRID2, COL2A1, RBPJ, NF1, ARNT2, ACTA1, VRK1, GRIP1, SMARCA4, DSP, IGF2, NOTCH2, GATA2, KIF5A, CHRM3, MMP13, MET, LRSAM1, NR2F1, TNFRSF1A, TMEM173, TSHR, GSC, RPS6KA3, WAS, INS, ABCC8, GNB4, DDX3X, DKC1, SMPD1, PAX2, LMX1B, HLA-DRB1, CNTN1, TGFB1, HNF4A, KIF1B, PTHLH, TUBB3, MNX1, FBN1, IHH, KISS1R, PTEN, FGFR3, FBLN1, SLC9A3R1, BTK, AHI1, NRAS, SMARCB1, PRKCD, ADGRG6, CHEK2, B9D1, FGF10, FAM126A, ACVR1, SOS1, DEAF1, ABCC9, TRH, GRM1, HRAS, SERPINF2, HTRA1, BAG3, TINF2, KIF1BP, LEMD3, COL1A1, CHRNG, PIGT, ALG2, EBP, TBX3, AGTR1, PRKAR1A, EDN1, SLC35A2, SOX10, BMP4, TGM1, EFEMP2, PDGFRB, HOXD13, GHSR, HLA-DQA1, THRB, PTCH1, WNT7A, CTSK, FBLN5, PTCH2, CANT1, COPA, IKBKAP, MPL, TFG, IFNG, PRX, STAT1, ELOVL4, PDGFRA, TGFBR1, EP300, ZBTB16, PROKR2, SEC23B, LRP6, PAX8, REN, SMARCA2, SNRPB, VWF, MECP2, MC2R, CASR, TRAPPC9, CHRNA1, CCND2, KRAS, PRKDC, IGF1R, SEC63, SLC25A4, LITAF, CDKN1C, MUSK, SHANK3, DLX5, RUNX2, HESX1, FLNA, MYH11, NGF, GJB2, CASK, PRKACA, INSR, FGFR2, PLCG2, LIFR, RPL11, WNT1, L1CAM, RET, FGF20, HACE1, GJA1, ITGA7, IFT80, COL4A3BP, STX16, BMPR1B, PIK3R1, HFE, HFE2

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, RETT SYNDROME, CONGENITAL VARIANT, WEAVER SYNDROME, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WIEDEMANN-STEINER SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 46XY SEX REVERSAL 9, LIEBENBERG SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, SHORT SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, MICROPHTHALMIA, SYNDROMIC 6, HAJDU-CHENEY SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CRANIOSYNOSTOSIS 3, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BRANCHIOOCULOFACIAL SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, CHAR SYNDROME, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, BRACHYDACTYLY, TYPE A2, JAWAD SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ADAMS-OLIVER SYNDROME 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, PARIETAL FORAMINA 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, DEJERINE-SOTTAS DISEASE, WAARDENBURG SYNDROME, TYPE 4C, HYPER-IGE RECURRENT INFECTION SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, NICOLAIDES-BARAITSER SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LOEYS-DIETZ SYNDROME 2, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, PITT-HOPKINS SYNDROME, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, PARIETAL FORAMINA 1, HOLT-ORAM SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, RUBINSTEIN-TAYBI SYNDROME, BRACHYDACTYLY, TYPE A1, D, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SPLIT-HAND/FOOT MALFORMATION 1, COUSIN SYNDROME, OHDO SYNDROME, X-LINKED, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, TCF12, HESX1, THRB, ZFPM2, TBX15, SMARCA4, TP53, SMARCA2, MED13L, TFAP2A, OTX2, CREBBP, DVL3, FOXG1, NOTCH1, STAT1, RBBP8, GATA2, PITX1, STAT3, HNF4A, TCF4, EGR2, NOTCH2, TBX5, AKT1, CCND2, SOX2, SOX10, ESR1, KMT2A, DLX5, MED12, SMAD4, BMP4, POU1F1, EZH2, EP300, TBX6, SOX11, TFAP2B, ITCH, T, RUNX2, TGFBR2, SMAD3, SALL1, BMPR1B, ACVR1, MSX2, ALX4, PQBP1, INS, RBPJ, RB1, PIK3R1

BASAL CELL NEVUS SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, 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, RENAL CYSTS AND DIABETES SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ?MULTIPLE SYNOSTOSES SYNDROME 3, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, LIEBENBERG SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, SOTOS SYNDROME 1, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADAMS-OLIVER SYNDROME 3, HAND-FOOT-UTERUS SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, LIMB-MAMMARY SYNDROME, SYNDACTYLY, TYPE V, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, BRACHYDACTYLY, TYPE E, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, ?OSTEOGENESIS IMPERFECTA, TYPE XII, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, CHAR SYNDROME, WEAVER SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CLEFT PALATE, ISOLATED, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, LAMB-SHAFFER SYNDROME, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, SPLIT-HAND/FOOT MALFORMATION 4, PCWH SYNDROME, FRONTONASAL DYSPLASIA 2, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, AYME-GRIPP SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, CRANIOSYNOSTOSIS, TYPE 2, 46,XX SEX REVERSAL, TYPE 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, BRANCHIOOCULOFACIAL SYNDROME, HAY-WELLS SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, ULNAR-MAMMARY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, KLIPPEL-FEIL SYNDROME 2, LADD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, PARIETAL FORAMINA 1, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, DNMT1, SOX9, ATRX, WNT5A, MAF, SMAD3, SMARCA4, SUFU, ERBB3, HNF1B, PAX3, OTX2, DLX5, DVL3, SP7, HNRNPA1, FOXG1, AKT1, TGFB1, IGF2, NOTCH1, DNMT3A, SOX5, FGF9, PTF1A, TBX3, AGT, CHEK2, PITX1, TP63, HNF4A, NSD1, TCF4, EGR2, BRCA1, HOXA13, TFAP2B, BMP2, NGF, SOX10, VDR, ESR1, UBB, FOXC2, ALX4, LZTR1, PTEN, TAF2, NDRG1, POU1F1, GLIS3, HNRNPK, IHH, GATA2, EP300, TP53, SOX11, NR2F1, HOXD10, HOXD13, BMP4, EZH2, DLX3, EFNB1, GSC, MEOX1, SALL1, CREBBP, RPS6KA3, FGF10, STAT3, TGFBR2, TFAP2A, MSX2, SOX2, INS, RBPJ, RB1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, 46XY SEX REVERSAL 9, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OPITZ GBBB SYNDROME, TYPE II, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, ABLEPHARON-MACROSTOMIA SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, MULTIPLE SYNOSTOSES SYNDROME 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LARON DWARFISM, PROUD SYNDROME, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CRANIOSYNOSTOSIS 4, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LANGER MESOMELIC DYSPLASIA, GLASS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, COFFIN-SIRIS SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EXUDATIVE VITREORETINOPATHY 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, CRANIOSYNOSTOSIS 3, PRADER-WILLI SYNDROME, FRONTONASAL DYSPLASIA 1, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, HOLT-ORAM SYNDROME, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, KLEEFSTRA SYNDROME, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, BRACHYDACTYLY, TYPE E2, GLYCOGEN STORAGE DISEASE IA, ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, BRACHYDACTYLY, TYPE A2, BRACHYDACTYLY, TYPE E, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, TRICHODONTOOSSEOUS SYNDROME, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 5, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FRONTONASAL DYSPLASIA 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FRAGILE X SYNDROME, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CRANIOSYNOSTOSIS, TYPE 2, MARSHALL-SMITH SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, WARBURG MICRO SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ROUSSY-LEVY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, CURRARINO SYNDROME, METACHONDROMATOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MELNICK-NEEDLES SYNDROME, VACTERL ASSOCIATION, X-LINKED, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LOEYS-DIETZ SYNDROME 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, KABUKI SYNDROME 2, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL CYSTS AND DIABETES SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ISCHIOCOXOPODOPATELLAR SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PANCREATIC AND CEREBELLAR AGENESIS, NEMALINE MYOPATHY 5, AMISH TYPE, MULIBREY NANISM, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, DYSKERATOSIS CONGENITA, X-LINKED, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, VELOCARDIOFACIAL SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, TARSAL-CARPAL COALITION SYNDROME, MALOUF SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CHAR SYNDROME, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CLEFT PALATE, ISOLATED, ARTHROGRYPOSIS, DISTAL, TYPE 8, LAMB-SHAFFER SYNDROME, DIGEORGE SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE XII, SPONDYLOPERIPHERAL DYSPLASIA, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MUSCULAR DYSTROPHY, CONGENITAL, ESTROGEN RESISTANCE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, KNIEST DYSPLASIA, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOPS SYNDROME, LOEYS-DIETZ SYNDROME 5, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, KLIPPEL-FEIL SYNDROME 2, HEART-HAND SYNDROME, SLOVENIAN TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, BASAL CELL NEVUS SYNDROME, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, COCKAYNE SYNDROME, TYPE B, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARTINGTON SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WAARDENBURG SYNDROME, TYPE 3, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE III, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 2, HAND-FOOT-UTERUS SYNDROME, CALCIFICATION OF JOINTS AND ARTERIES, DUANE-RADIAL RAY SYNDROME, LIMB-MAMMARY SYNDROME, OHDO SYNDROME, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, BRACHYDACTYLY, TYPE A1, D, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, MENTAL RETARDATION, X-LINKED 45, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CORNELIA DE LANGE SYNDROME 2, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, ?CHARGE SYNDROME, CHARGE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, LOEYS-DIETZ SYNDROME 1, AYME-GRIPP SYNDROME, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, SMED STRUDWICK TYPE, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, MOHR-TRANEBJAERG SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?FACIAL CLEFTING, OBLIQUE, 1, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, BRACHYDACTYLY, TYPE B1, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PRIMROSE SYNDROME, BARAITSER-WINTER SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LIEBENBERG SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PITUITARY DEPENDENT HYPERCORTISOLISM, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JACKSON-WEISS SYNDROME, APERT SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, SYNDACTYLY, TYPE V, COUSIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SOTOS SYNDROME 2, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, CAFFEY DISEASE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?OTOFACIOCERVICAL SYNDROME 2, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, HOLOPROSENCEPHALY-9, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SED CONGENITA, JAWAD SYNDROME, 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, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WEAVER SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, LERI-WEILL DYSCHONDROSTEOSIS, CRANIOSYNOSTOSIS 6, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, KABUKI SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME

TCF12, CA2, SLC34A1, BRCA2, DLL4, GNAI2, PITX1, POLR1A, LMNA, COL1A1, SMARCB1, SALL1, RAD21, ACTB, NT5E, IKBKG, TGM1, RPL5, NKX3-2, DDX3X, TBX3, AGT, TAF6, ZIC1, SOX2, CCT5, DKC1, KDM1A, FLNA, EDN1, BTK, MYH11, PAX1, TRIP4, PAX8, UBB, STK11, ZBTB20, NOG, EGR2, NDRG1, NR2F1, ERCC6, IKBKAP, PTRF, BAG3, CDC6, SUFU, BMPER, ROBO3, TFAP2B, WNK1, BMP4, CDC73, ERCC2, TGFBR2, HNRNPA1, SMAD4, MEOX1, IGF1, CAPN3, MECP2, POU1F1, MSX2, MAFB, THRB, SF3B4, GLI2, ARNT2, KMT2A, ACTA1, ALX4, ACE, NF2, ATRX, GRIP1, TBX15, KRAS, KDM6A, ERBB3, TWIST2, LZTR1, MYH7, CYP7B1, NME1, SP7, IGF2, GATAD2B, NOTCH1, DNMT3A, THRA, PTF1A, APTX, MAPT, CIITA, GATA2, KIF5A, HOXA13, SOX5, ZNF408, PAX2, HNRNPK, AFF4, SHOX, MECOM, T, CBL, SMARCE1, KMT2C, NR1I3, MMP13, IFNG, FBN2, EFTUD2, ICK, ZIC3, GLIS3, TNNT1, MPZ, EP300, TGFB3, TAF1, VCP, HSPD1, SPECC1L, ROR2, VDR, TFAP2A, EZH2, HOXA11, TNNT2, GSC, PCNA, CHD7, RPS6KA3, RBBP8, TP63, ERCC8, DUSP6, TBX1, G6PC, INS, KAT6B, SMC3, ALX3, PAX3, GATA1, PTCH1, MED12, BANF1, ZNF81, ALPL, DVL1, SLC35A2, STX16, HNF1B, RB1, MYH3, SPAST, CDK5, DVL3, ARX, GAD1, HARS, GHR, LMX1B, RAB3GAP1, HDAC6, TNFSF11, CASR, SOX11, GJA1, SOX9, PQBP1, BMP2, HNF4A, ACVR1, TUBB, HRAS, BRCA1, FOXG1, NDN, FMR1, AKT1, CCND2, SMARCA4, KANSL1, PRKDC, WNT5A, FOXC2, TBX5, IGF1R, RBM8A, MNX1, NONO, MYH2, SLC25A4, HOXD10, IHH, VPS33B, SKI, GLI3, TP53, TWIST1, SMC1A, TINF2, CDKN1C, ZBTB16, HSPA9, PTEN, BMPR1B, FGFR3, FGF9, HAMP, MAF, SOX10, DLX5, GPX4, RUNX2, COL2A1, AIP, HESX1, IRF5, ZFPM2, SMAD3, BIN1, HDAC8, FRZB, CHEK2, FBLN1, OTX2, ACTG1, ALB, ASXL1, DHCR7, PUF60, NTRK1, PMP22, PTPN11, ERF, KMT2D, DDX58, SPG7, FGF10, TGFB1, NSD1, STAT1, STAT3, NGF, TBX4, TCF4, RBMX, TRPS1, SMARCA2, EFEMP2, SOS1, KARS, PDGFRB, DNMT1, ITCH, FGFR2, CREBBP, TIMM8A, UMOD, SALL4, RPL11, MYCN, WNT1, PTHLH, GNAS, TRH, F2, RET, TBX6, APC, KAT6A, CRB2, HACE1, HOXD13, HLA-C, DLX3, SFTPC, TAF2, NFIX, IRF6, HSPG2, ESR1, RBPJ, TRIM37, MMP1, SATB2, MTOR, PIK3R1, MMP2

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, DIHYDROPYRIMIDINURIA, SHPRINTZEN-GOLDBERG SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CAMURATI-ENGELMANN DISEASE, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, ADAMS-OLIVER SYNDROME 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, VON WILLIBRAND DISEASE, TYPE 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLUTAMINE DEFICIENCY, CONGENITAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, HUTCHINSON-GILFORD PROGERIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, RESTRICTIVE DERMOPATHY, LETHAL, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, SMITH-KINGSMORE SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HEART-HAND SYNDROME, SLOVENIAN TYPE, NICOLAIDES-BARAITSER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, RUBINSTEIN-TAYBI SYNDROME 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MALOUF SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, GLYCOGEN STORAGE DISEASE VII, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, HYPEROXALURIA, PRIMARY, TYPE 1, MYOPATHY, DISTAL, TATEYAMA TYPE, JOHANSON-BLIZZARD SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

PEX5, KIF5C, CAV3, GLRA1, SHMT1, BIN1, TP53, SMARCA2, EP300, IGF1, PTRF, TGFB1, VWF, UBR1, GCH1, AGT, CBS, GJA1, MTHFR, LMNA, AKT1, DPYS, PRKDC, FHL1, IGF1R, AGXT, FOLR1, KARS, GLUL, NEFL, JPH1, GPX4, PFKM, DES, HSPD1, KIF1BP, HRAS, SLC19A1, AARS, GAD1, HNRNPA1, SNAP25, PTEN, STX16, PCNA, ALB, GPHN, INS, RBPJ, MTOR

TUBEROUS SCLEROSIS 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, IMMUNODEFICIENCY 43, POPLITEAL PTERYGIUM SYNDROME 1, RHEUMATOID ARTHRITIS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DESMOSTEROLOSIS, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {PSORIASIS SUSCEPTIBILITY 1}

HLA-DQB1, IL10, B2M, DHCR24, IFNG, HLA-DRB1, IRF6, HLA-C, HLA-B, HLA-DQA1, HFE, HSPD1

BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, GLUTAMINE DEFICIENCY, CONGENITAL, CZECH DYSPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BARTTER SYNDROME, TYPE 2, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, NEMALINE MYOPATHY 5, AMISH TYPE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, MYHRE SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, LIMB-MAMMARY SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, METATROPIC DYSPLASIA, BARDET-BIEDL SYNDROME 3, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, OTOPALATODIGITAL SYNDROME, TYPE II, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, RENAL TUBULAR DYSGENESIS, HAY-WELLS SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, VAN BUCHEM DISEASE, TYPE 2, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARDET-BIEDL SYNDROME 4, BARDET-BIEDL SYNDROME 7, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FRANK-TER HAAR SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?DYSTONIA 23, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, NIEMANN-PICK DISEASE, TYPE A, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, TIMOTHY SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, NOONAN SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, OTOPALATODIGITAL SYNDROME, TYPE I, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, 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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, MARINESCO-SJOGREN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ANDERSEN SYNDROME, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, EXUDATIVE VITREORETINOPATHY 4, PARASTREMMATIC DWARFISM, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, [BONE MINERAL DENSITY VARIABILITY 1], POLYCYSTIC LIVER DISEASE, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BARDET-BIEDL SYNDROME 5, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, BARDET-BIEDL SYNDROME 2, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SED, MAROTEAUX TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSAUTONOMIA, FAMILIAL, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LEGG-CALVE-PERTHES DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MASA SYNDROME, CRASH SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

F2, KMT2A, NCF1, SBF2, PIGT, CACNA1B, RPL5, SNX10, TBX3, AGT, CDK5, BBS4, PCYT1A, EDN1, BTK, GJA1, SOX10, SNX14, NF1, IKBKAP, JPH1, DNM2, DES, PIK3CA, BBS2, SBF1, MTMR2, SMAD4, CREBBP, GNAI2, PDGFRB, ACTA1, SOX9, ACTB, CHD7, MMP2, IL10, CAPN3, NME1, NOTCH2, GLUL, MAPT, MTOR, CBL, COL2A1, KCNJ1, TNNT1, GLIS3, SYT2, HSPD1, ARL6, RB1, RAG2, AP4B1, WAS, INS, SNAP25, CAV3, TGFBR1, SMPD1, IGF1, DVL3, STAT1, HDAC6, LRP5, CASR, DMD, RAPSN, TUBB, HRAS, AKT1, BIN1, TPI1, PRKDC, FHL1, TP53, HLA-C, SH3PXD2B, BBS7, ARL6IP1, PSTPIP1, SIL1, PTEN, TRPV4, MUSK, AMER1, INPPL1, MTM1, KIT, STAT3, ITCH, BBS5, FLNA, STX16, NGF, PRKCD, HNRNPK, PTRF, TGFB1, PTPN11, CASK, ZFYVE26, TP63, CACNA1C, INSR, SOS1, DNMT1, NDRG1, DOK7, L1CAM, PCNA, KCNJ2, LRP6, F10, LRP2, COL4A3BP, SMAD3, TERT, ALB, HSPG2, ESR1, TGFBR2, KIF1BP, PIK3R1

BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, COCKAYNE SYNDROME, TYPE A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, 46XY SEX REVERSAL 9, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 6, 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, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, WIEDEMANN-STEINER SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DYSAUTONOMIA, FAMILIAL, PARIETAL FORAMINA 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, KLEEFSTRA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, AURICULOCONDYLAR SYNDROME 3, PITT-HOPKINS SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?BARDET-BIEDL SYNDROME 11, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, LIEBENBERG SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY 43, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, FLOATING-HARBOR SYNDROME, RHEUMATOID ARTHRITIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OHDO SYNDROME, X-LINKED, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE IA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HOLT-ORAM SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LADD SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WAARDENBURG SYNDROME, TYPE 4C, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, CHAR SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COFFIN-SIRIS SYNDROME 4, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PITUITARY DEPENDENT HYPERCORTISOLISM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COFFIN-SIRIS SYNDROME 2, COFFIN-SIRIS SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BRACHYDACTYLY, TYPE E, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, SYNDACTYLY, TYPE V, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, WAARDENBURG SYNDROME, TYPE 3, FRAGILE X SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, PARIETAL FORAMINA 1, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LUJAN-FRYNS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, CRANIOSYNOSTOSIS, TYPE 2, 46,XX SEX REVERSAL, TYPE 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, BRANCHIOOCULOFACIAL SYNDROME, BRACHYDACTYLY, TYPE A1, D, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, MYHRE SYNDROME, ROUSSY-LEVY SYNDROME, BRACHYDACTYLY, TYPE A2, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, EXUDATIVE VITREORETINOPATHY 1, KABUKI SYNDROME 1, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

MMP2, KMT2A, ACTB, IKBKG, GLI3, AGT, CDK5, KDM1A, UBA1, EDN1, TRIP4, B2M, FMR1, PDLIM4, TRIM32, BMP4, HNRNPA1, CREBBP, POU1F1, IKBKAP, RBPJ, SF3B4, HOXD13, ACTA1, SOX9, THRB, GRIP1, SOX2, LZTR1, IRF5, NOTCH1, MYCN, CIITA, GATA2, PITX1, TAF6, EGR2, FZD4, MSX2, SMARCE1, NR1I3, TRIP11, EP300, TAF1, NR2F1, RB1, ACVR1, ERCC8, ALX4, INS, KAT6A, PAX8, GATA1, DDX3X, GJA1, SMARCA2, SMAD4, MECP2, HDAC6, PQBP1, HNF4A, RAPSN, TUBB, BRCA1, AKT1, CCND2, SMARCA4, VDR, TBX5, TAF2, UBE3A, NEFL, ARID1B, HNRNPK, EZH2, TWIST1, CDC6, ITCH, HSPA9, PTEN, MED12, TFAP2A, SOX10, DLX5, RUNX2, AIP, ZFPM2, SMARCB1, CHEK2, PAX3, ACTG1, ARID1A, ASXL1, PMP22, SRCAP, KMT2D, FGF10, STAT3, TCF4, TFAP2B, TP53, DNMT1, THRA, SOX11, HRAS, HACE1, SMAD3, BMPR1B, ESR1, MTOR, SKI

LYSYL HYDROXYLASE 3 DEFICIENCY, BASAL CELL NEVUS SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, VERHEIJ SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, 46XY SEX REVERSAL 9, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, TARP SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, 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, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, WERNER SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PARIETAL FORAMINA 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, KLEEFSTRA SYNDROME, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL SYNDROME, AURICULOCONDYLAR SYNDROME 3, KABUKI SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, ?BARDET-BIEDL SYNDROME 11, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, CRANIOSYNOSTOSIS 4, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, LIEBENBERG SYNDROME, WAARDENBURG SYNDROME, TYPE 3, 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, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, SECKEL SYNDROME 2, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SOTOS SYNDROME 1, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 3, COFFIN-SIRIS SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, FLOATING-HARBOR SYNDROME, RHEUMATOID ARTHRITIS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OHDO SYNDROME, X-LINKED, INCONTINENTIA PIGMENTI, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE IA, COUSIN SYNDROME, PARIETAL FORAMINA 1, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HOLT-ORAM SYNDROME, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, BRACHYDACTYLY, TYPE A1, D, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, CHAR SYNDROME, CULLER-JONES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WEAVER SYNDROME, CRANIOSYNOSTOSIS 3, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DIGEORGE SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, BALLER-GEROLD SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, PITUITARY DEPENDENT HYPERCORTISOLISM, JAWAD SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, COFFIN-SIRIS SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, GENITOPATELLAR SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, SYNDACTYLY, TYPE V, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MICROPHTHALMIA, SYNDROMIC 2, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BRACHYDACTYLY, TYPE E, FRAGILE X SYNDROME, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, RETT SYNDROME, CONGENITAL VARIANT, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, SMITH-MAGENIS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LUJAN-FRYNS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, 46,XX SEX REVERSAL, TYPE 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, BRANCHIOOCULOFACIAL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, IVIC SYNDROME, MYHRE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, ROUSSY-LEVY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, EXUDATIVE VITREORETINOPATHY 1, KABUKI SYNDROME 1, DYSAUTONOMIA, FAMILIAL, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, BRACHYDACTYLY, TYPE B1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, CA2, PEX14, MMP2, PLOD3, WNT5A, MED13L, SALL1, ACTB, IKBKG, EHMT1, RAI1, SMARCA4, TBX3, AGT, CDK5, OTX2, KDM1A, UBA1, EDN1, GJA1, TRIP4, KMT2A, FMR1, PTRH2, NR2F1, BCOR, PDLIM4, CDC6, TRIM32, BMP4, BMPER, HNRNPA1, HOXD13, CREBBP, POU1F1, GNAI2, RBPJ, SF3B4, PTEN, ACTA1, VRK1, GRIP1, KRAS, ERBB3, GLI2, TFAP2A, IRF5, WRN, NOTCH1, MYCN, SMARCB1, CIITA, GATA2, PITX1, TAF6, EGR2, MECP2, CFL2, FZD4, MSX2, COPA, SMARCE1, IKBKAP, NR1I3, RBM10, TRIP11, AIP, GLIS3, SOX9, EP300, TAF1, GLI3, THRB, ROR2, KCTD1, TSHB, GSC, RBBP8, STAT3, ERCC8, TBX1, INS, KAT6B, SMC3, PAX8, GATA1, MED12, DDX3X, SLC35A2, SHOC2, SUFU, SMAD4, CHAT, PAX2, LMX1B, HDAC6, CHD7, PQBP1, BMP2, HNF4A, RAPSN, TUBB, BRCA1, MTOR, AKT1, CCND2, SOX2, PRKDC, TBX5, VCP, TP53, UBE3A, NEFL, PEX19, ARID1B, HNRNPK, EZH2, LHX4, TWIST1, SMC1A, HARS, ITCH, ZBTB16, HSPA9, EFNB1, NONO, FOXG1, TBX15, LZTR1, MAF, KDM6A, DLX5, RUNX2, RB1, VDR, ZFPM2, NGF, PRKCD, CHEK2, PAX3, ACTG1, BMPR1B, ASXL1, PUF60, TGFB1, PMP22, SRCAP, ERF, KMT2D, FGF10, NSD1, ACVR1, TCF4, RECQL4, SMARCA2, TFAP2B, TAF2, BLM, DNMT1, ALX4, SALL4, THRA, PCNA, TBX6, SOX11, KAT6A, HRAS, HACE1, NHP2, SMAD3, ARID1A, ESR1, PIK3R1, SOX10, CASK, SKI

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SECKEL SYNDROME 2, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARASIL SYNDROME, CATSHL SYNDROME, DYSAUTONOMIA, FAMILIAL, MOLYBDENUM COFACTOR DEFICIENCY A, HPRT-RELATED GOUT, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HYPER-IGE RECURRENT INFECTION SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUCKLE-WELLS SYNDROME, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, TUBEROUS SCLEROSIS-1, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, ANGELMAN SYNDROME, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, FLOATING-HARBOR SYNDROME, RHEUMATOID ARTHRITIS, CRANIOSYNOSTOSIS 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, CULLER-JONES SYNDROME, PELGER-HUET ANOMALY, TYROSINEMIA, TYPE I, [URIC ACID CONCENTRATION, SERUM, QTL1], SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?JOUBERT SYNDROME 22, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MECKEL SYNDROME 12, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, TRIGONOCEPHALY 1, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, BRACHYDACTYLY, TYPE E, COWDEN SYNDROME 7, MUENKE SYNDROME, OPITZ-KAVEGGIA SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 2, ?AL-GAZALI-BAKALINOVA SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 4, OGDEN SYNDROME, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, CRANIOLENTICULOSUTURAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), ?DYSTONIA 23, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MENKES DISEASE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, HAY-WELLS SYNDROME, SED, MAROTEAUX TYPE, CRANIOSYNOSTOSIS, TYPE 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, OVARIAN DYSGENESIS 4, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 46,XX SEX REVERSAL, TYPE 2, BRACHYOLMIA TYPE 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, TARP SYNDROME, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CAFFEY DISEASE, BLAU SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, PROPIONICACIDEMIA, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHPRINTZEN-GOLDBERG SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, CINCA SYNDROME, HYPOPHOSPHATEMIC RICKETS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP O, COFFIN-SIRIS SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTHROGRYPOSIS, DISTAL, TYPE 8, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, OPSISMODYSPLASIA, BEHR SYNDROME, MALOUF SYNDROME, LEOPARD SYNDROME 1, OROFACIODIGITAL SYNDROME V, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HERMANSKY-PUDLAK SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JOUBERT SYNDROME 10, ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ?INFANTILE LIVER FAILURE SYNDROME 1, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, CLEFT PALATE, ISOLATED, MUSCULAR DYSTROPHY, CONGENITAL, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, KINDLER SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, SECKEL SYNDROME 5, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, APERT SYNDROME, ESTROGEN RESISTANCE, ALAZAMI SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, ?HYDROLETHALUS SYNDROME 2, NEU-LAXOVA SYNDROME 1, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, CORNELIA DE LANGE SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, ?PRUNE BELLY SYNDROME, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, LARSEN SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, LESCH-NYHAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, FUHRMANN SYNDROME, HEART-HAND SYNDROME, SLOVENIAN TYPE, CAPOS SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, SECKEL SYNDROME 7, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, BARDET-BIEDL SYNDROME 10, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, CRANIOFRONTONASAL DYSPLASIA, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, WILSON DISEASE, COCKAYNE SYNDROME, TYPE B, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, METATROPIC DYSPLASIA, DENT DISEASE, DEJERINE-SOTTAS DISEASE, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?BARDET-BIEDL SYNDROME 19, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CENTRONUCLEAR MYOPATHY 5, IMMUNODEFICIENCY 43, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, HARTSFIELD SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SITOSTEROLEMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, DYSKERATOSIS CONGENITA, X-LINKED, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, HYPOCHONDROPLASIA, MECKEL SYNDROME 10, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FILS SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, FANCONI RENOTUBULAR SYNDROME 2, CALCIFICATION OF JOINTS AND ARTERIES, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, LIMB-MAMMARY SYNDROME, OHDO SYNDROME, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MEIER-GORLIN SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, BERGER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEIER-GORLIN SYNDROME 4, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, NEPHRONOPHTHISIS 15, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BRACHYDACTYLY, TYPE A1, D, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OROFACIODIGITAL SYNDROME I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, AICARDI-GOUTIERES SYNDROME 5, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, PSORIASIS 2, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OCCIPITAL HORN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, FANCONI ANEMIA, COMPLEMENTATION GROUP T, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, STAR SYNDROME, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, THANATOPHORIC DYSPLASIA, TYPE II, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, BRACHYDACTYLY, TYPE B1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, INTERSTITIAL LUNG AND LIVER DISEASE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, AGAMMAGLOBULINEMIA, X-LINKED 1, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, PSEUDOHYPOPARATHYROIDISM IA, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, NOONAN SYNDROME 4, ADULT SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, LIEBENBERG SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, DIGITAL CLUBBING, ISOLATED CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RUBINSTEIN-TAYBI SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, BRUCK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ROTHMUND-THOMSON SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, JACKSON-WEISS SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, TUBEROUS SCLEROSIS 2, SYNDACTYLY, TYPE V, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, CHOREOACANTHOCYTOSIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, HYPEREKPLEXIA HEREDITARY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, HYPERTENSION AND BRACHYDACTYLY SYNDROME, AURICULOCONDYLAR SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, JAWAD SYNDROME, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?APLASIA CUTIS CONGENITA, NONSYNDROMIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, PERRAULT SYNDROME 5, PARASTREMMATIC DWARFISM, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, PARIETAL FORAMINA 1, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, HEMOCHROMATOSIS TYPE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MECKEL SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DIAMOND-BLACKFAN ANEMIA 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, CODAS SYNDROME, KABUKI SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, SIALURIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, ATELOSTEOGENESIS, TYPE III, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

TCF12, CA2, TSC2, GNAI2, EDNRA, HSPB1, PDE4D, ACADS, LBR, GNAS, CIITA, RPL5, FTL, RBBP8, POLD1, PCYT1A, CDC6, NLRP12, B2M, KIF7, PTRH2, TERT, ERCC6, FAM58A, WNK1, ARSE, RPS19, TYROBP, TGFBR2, CREBBP, GNE, MYO18B, DYNC2H1, NONO, NF2, ATRX, SCN4A, TRPV4, SOX2, ERBB3, GK, IRF5, LONP1, SQSTM1, SHMT1, DAG1, IKBKG, MTOR, TAF6, IL10, SMARCE1, KCNJ1, AP2S1, SPEG, MKKS, HSPD1, ROR2, TNNT2, ENPP1, TRAPPC9, DUSP6, SMC3, GATA1, CAV3, BANF1, TGFBR1, DDR2, PRPS1, NRAS, AP4M1, SMAD4, MTHFR, DVL3, CEP290, TPM2, HDAC6, ASNS, IARS2, CTDP1, CTSD, TUBB, BBS7, AKT1, RIPK4, TPI1, AIP, PPIB, UBA1, STAMBP, UBE3A, LARP7, AGPS, EZH2, RECQL4, HOXA11, HSPA9, EFNB1, PEX5, XRCC4, NOD2, ADK, CUL4B, SPTLC2, FGF23, HINT1, HNRNPK, LAMA2, PIK3R2, SRCAP, MSX2, MAPRE2, SPG7, IFT27, STAT3, SPATA5, CENPE, PCCA, EGR2, NLRP5, RAB7A, KAT6A, POMK, LRP2, AP3B1, DHCR24, EXOC8, ACE, SKI, PEX14, SEC23A, CYBA, TREX1, WNT5A, NCF1, MMP1, NAA10, ACTB, SEMA3E, MOCS2, CACNA1B, COL1A2, ALPL, AP4B1, PCCB, PDE11A, CCT5, REN, MYH7, IKBKAP, NPR2, NEK8, CDT1, PCNT, CDC73, POR, BBS2, SPAST, MYH3, CAPN3, CLCN7, KIF1A, OCRL, SOX9, INF2, TGFB2, MMP2, MAP2K2, ADCY6, NME1, SP7, VWF, NOTCH1, MYCN, ITGB4, PITX1, CFL2, EXOSC8, KIF5C, B9D2, CRYAB, RBM10, VPS33B, HARS, NLRC4, FANCA, RB1, RAB18, PLOD2, GPHN, UPF3B, BMS1, BRAF, SNAP25, RAB33B, PIGR, ORC4, BBS12, DPH1, UBE2A, IGF1, DNAJB6, DARS2, CBS, SNIP1, GMPPB, TAZ, ABCG5, NIN, UBE2T, BMP2, F10, BBS10, SMC1A, KL, TXNL4A, VDR, FGFR1, NAGLU, TP53, YARS, HLA-C, CLIC2, LHX4, PSTPIP1, HK1, NF1, NT5C2, LZTR1, RBM28, KIT, DHODH, SCYL1, DDX41, SETX, AIMP1, FBLN1, ACTG1, PRKCSH, KIF22, PIP5K1C, KMT2D, DVL1, EIF2AK3, SPTLC1, TSC1, SLC34A1, TAF2, BLM, DNMT1, GBE1, TINF2, THRA, OFD1, PCNA, APC, TMEM165, SMAD3, ALDH18A1, NLRP3, DDX58, HPGD, C10orf2, LMNA, DDX59, ARL6IP1, F2, KIF5A, MYH14, SALL1, RAD21, IFIH1, IGBP1, CENPF, PEX6, EFTUD2, ATP6V1B2, AGT, VPS53, GNAI3, CDK5, TRAPPC2, KDM1A, RBMX, EIF4A3, SOS1, IGHMBP2, STK11, FMR1, NDRG1, CDKN1C, PDE6D, PPP1R15B, FANCM, PIK3CA, PTPN11, HNRNPA1, RBPJ, MYH2, FANCD2, ACTA1, VRK1, MFN2, GRIP1, ACVR1, SMARCA4, CBL, CDKL5, CLCN5, IGF2, PIGT, MAPT, GATA2, ADCK3, MET, NTRK1, CEP152, PLOD1, PLOD3, PSMB8, APTX, MMP13, KARS, ICK, DYNC1H1, ATL1, SAMHD1, TMEM173, GSC, PAPSS2, SLC22A4, RPS6KA3, WAS, VCP, INS, MOCS1, PFKM, DDX3X, DKC1, KIF14, TNPO3, PEX1, HSD17B10, SDHD, PAX2, LMX1B, STAT1, CNTN1, CARD14, BICD2, HNF4A, RAPSN, ARL6, CEP164, TNFRSF1A, BRCA1, PTHLH, ATL3, TUBB3, CYBB, SMARCAL1, PHGDH, DNA2, HNRNPDL, EDN1, RAD51C, TTN, ABCG2, PTEN, FGFR3, SLC9A3R1, VPS13A, FAH, SSR4, SMARCB1, PRKCD, UBB, CHEK2, PUF60, SDHA, MED25, PANK2, ATP7A, TGFB1, ERCC4, DMD, TP63, NEK1, TCF4, POLE, SGCG, ABCC9, STRADA, UCHL1, PYCR2, ABCC8, HRAS, POLG, MYH8, HTRA1, IRF6, TRIM37, MEGF10, FLNB, BRCA2, MARS2, POLR1A, LEMD3, COL1A1, ORC1, NT5E, DNM2, AGTR1, PRKAR1A, KISS1R, HPRT1, BTK, IBA57, AARS, CLASP1, PDLIM4, NEU1, TRIM32, BMP4, ERCC2, PDGFRB, HOXD13, THRB, WNT7A, CHD7, KRAS, RBM8A, GLI2, ABCA12, WRN, GLUL, GARS, AGXT, MECOM, COPA, DDX11, ZNF408, IFNG, NSUN2, HLA-DRB1, PDE3A, PDGFRA, NCF2, EP300, TAF1, RTEL1, ZBTB16, SF3B4, NLRP1, FERMT1, SEC23B, LRP6, LARS, KCNJ11, GJA1, SMARCA2, INPP5E, SNRPB, RPS28, SGCA, MECP2, MVK, PLS3, CASR, GCK, KIF1B, TRIM2, CCND2, PRKDC, IGF1R, MED12, SEC63, ATP1A3, SLC25A4, ABCC6, TOR1A, COASY, ITCH, ATP7B, SIL1, MUSK, CHRM3, INPPL1, RUNX2, SUMF1, NHP2, GLE1, PDK3, FLNA, MYH11, BIN1, MCM9, RAB23, BMPR1B, HSD17B4, NGF, ENTPD1, CASK, ESR1, PRKACA, INSR, AKT3, FGFR2, MARS, RPL11, GCH1, FANCC, L1CAM, OPA1, RET, PEX19, HACE1, COL4A3BP, STX16, ATR, MTRR, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CLEFT PALATE, ISOLATED, ADAMS-OLIVER SYNDROME 3, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, OCULOECTODERMAL SYNDROME, ACROMICRIC DYSPLASIA, GELEOPHYSIC DYSPLASIA 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HARTSFIELD SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CATSHL SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, RENAL ADYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SHORT SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CROUZON SYNDROME, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, METACHONDROMATOSIS, STIFF SKIN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, LADD SYNDROME, ACHONDROPLASIA, TRIGONOCEPHALY 1, BRACHYDACTYLY, TYPE B1, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

F2, KRAS, ERBB3, IGF2, NTRK1, PTPN11, FGFR1, INSR, DDR2, NGF, FGFR2, IGF1R, MET, PDGFRA, FBN1, RET, AKT1, ROR2, PDGFRB, FGFR3, STAT3, KIT, RBPJ, MUSK, PIK3R1

THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AGAMMAGLOBULINEMIA, X-LINKED 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, TRIGONOCEPHALY 1, RENAL TUBULAR DYSGENESIS, SADDAN, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, CATSHL SYNDROME, SHORT SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, JACKSON-WEISS SYNDROME, STIFF SKIN SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LADD SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 7, MUENKE SYNDROME, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, METACHONDROMATOSIS, GELEOPHYSIC DYSPLASIA 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HAY-WELLS SYNDROME, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, ADULT SYNDROME, CROUZON SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, PAGET DISEASE OF BONE 3, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

TGFBR1, F2, NGF, ERBB3, FGFR2, MAP2K2, UBB, CDK5, IGF2, NTRK1, SQSTM1, PTPN11, PDGFRB, AGT, FGFR1, STAT3, NEK1, INSR, HRAS, AKT1, CCND2, DDR2, BTK, PRKDC, COPA, PACS1, MMP1, IGF1R, MET, PRKCD, TP53, UBE3A, FBN1, PDGFRA, RET, POLD1, ROR2, ZBTB16, MUSK, FGFR3, RPS6KA3, FGF10, TP63, PIK3R1, SEC23B, KIT, RBPJ, SCYL1, RB1, SKI

BARAITSER-WINTER SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, BARTTER SYNDROME, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WILSON DISEASE, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, BARAITSER-WINTER SYNDROME 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, FANCONI RENOTUBULAR SYNDROME 2, METATROPIC DYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 1, HYPOPHOSPHATASIA, INFANTILE, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, AURICULOCONDYLAR SYNDROME 3, TRIGONOCEPHALY 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, IMMUNODEFICIENCY 43, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, HARTSFIELD SYNDROME, MENKES DISEASE, OTOPALATODIGITAL SYNDROME, TYPE II, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, LEOPARD SYNDROME 1, ULNAR-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, TEMPLE-BARAITSER SYNDROME, OCCIPITAL HORN SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TUBEROUS SCLEROSIS 2, MYOPATHY, TUBULAR AGGREGATE, 2, HERMANSKY-PUDLAK SYNDROME 2, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, KEPPEN-LUBINSKY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?DYSTONIA 23, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, OSTEOGLOPHONIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 3, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, OTOPALATODIGITAL SYNDROME, TYPE I, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED 21/34, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OLMSTED SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ANDERSEN SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PARASTREMMATIC DWARFISM, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MYASTHENIC SYNDROME, CONGENITAL, 16, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, CHERUBISM, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, METACHONDROMATOSIS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SED, MAROTEAUX TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOPHOSPHATASIA, CHILDHOOD, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, PAGET DISEASE OF BONE 3, MYOCLONIC-ATONIC EPILEPSY, 3MC SYNDROME 1, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, OSTEOLYSIS, FAMILIAL EXPANSILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, MASA SYNDROME, CRASH SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 3, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

CA2, SLC34A1, TSC2, ACTB, SLC17A3, SQSTM1, ALPL, TBX3, AGT, KCNJ6, CDK5, EDN1, B2M, KCNA1, SLC6A8, JPH1, CACNA1B, EFEMP2, ADCY6, MAFB, TRPV3, IL1RAPL1, SCN4A, SCN11A, ERBB3, NIPA1, NALCN, CAPN3, SLC34A3, SHMT1, DAG1, RYR1, FGFR1, SH3BP2, KIF5C, ORAI1, KCNJ1, ICK, TALDO1, TGFBR1, HSPD1, TNFRSF1A, SLC6A17, SNAP25, TNFRSF11A, STAT3, INS, ABCC8, SMC3, CTSD, CAV3, STIM1, KCNJ11, GJA1, HNF1B, IGF1, KCNJ5, LMX1B, CNTN1, DMD, SLC9A6, CHRNE, AKT1, SLC5A7, VCP, AIMP1, TP53, SEC63, ATP1A3, SLC9A3R1, ATP7B, PTEN, TRPV4, KCNH1, CHRM3, FLNA, SLC40A1, NGF, MASP1, SLC12A6, ACTG1, PRKCD, TGFB1, SLC39A8, PTPN11, PDE4D, SLC39A13, AP3B1, SPTLC1, PRKACA, CACNA1C, SCN9A, SOS1, HERC2, ABCC9, L1CAM, PCNA, RAB7A, GRM1, KCNJ2, PAM16, SLC6A1, LRP2, ATP7A, SMAD3, ALB, ESR1, CALCR, CASK

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CAMURATI-ENGELMANN DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, KNOBLOCH SYNDROME 1, OTOPALATODIGITAL SYNDROME, TYPE II, GELEOPHYSIC DYSPLASIA 1, EHLERS-DANLOS SYNDROME, TYPE 3, VON WILLIBRAND DISEASE, TYPE 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, TYPE VIIC, GELEOPHYSIC DYSPLASIA 2, HYPER-IGE RECURRENT INFECTION SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PAPILLORENAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BRACHYDACTYLY, TYPE A2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, ACROMICRIC DYSPLASIA, RENAL TUBULAR DYSGENESIS, FUHRMANN SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ADAMS-OLIVER SYNDROME 5, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE XIII, STIFF SKIN SYNDROME, AU-KLINE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ADAMS-OLIVER SYNDROME 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

WNT7A, ACAN, FBLN5, PRKCD, HNRNPK, VWF, FBLN1, NOTCH1, FERMT3, TGFB1, MMP2, PAX2, TNFSF11, SPG7, AGT, ADAMTS18, STAT3, BMP2, PTHLH, MFAP5, FLNA, TP53, PRKDC, ECE1, MMP1, MMP13, ADAMTS10, CRYAB, PHEX, FBN1, ZMPSTE24, BMP1, RUNX2, PMPCA, ADAMTS2, BMP4, BMPER, MBTPS2, IGF1, DLL4, ECEL1, SMAD4, ADAMTSL2, INS, RBPJ, PTEN, PIK3R1

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {PSORIASIS SUSCEPTIBILITY 1}, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, BARAITSER-WINTER SYNDROME 1, FACTOR X DEFICIENCY, CAFFEY DISEASE, CAMURATI-ENGELMANN DISEASE, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, C1R/C1S DEFICIENCY, COMBINED, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CORNELIA DE LANGE SYNDROME 4, VON WILLIBRAND DISEASE, TYPE 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MICROPHTHALMIA, SYNDROMIC 6, SMITH-KINGSMORE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 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, ?DYSTONIA, JUVENILE-ONSET, MYHRE SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, COMPLEMENT FACTOR I DEFICIENCY, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, 3MC SYNDROME 1, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HEMOPHILIA A, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CARASIL SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BRACHYDACTYLY, TYPE A2, EXUDATIVE VITREORETINOPATHY 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPER-IGE RECURRENT INFECTION SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, GALACTOSIALIDOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CODAS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, RENAL TUBULAR DYSGENESIS, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HAIM-MUNK SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

VLDLR, NME1, F2, MYH11, NGF, CDK5, HSPB1, SMAD3, COL1A1, HSD17B10, RAD21, F7, ACTB, IGF2, TGFB1, VWF, CTSA, C1R, PPIB, CREBBP, TGFB3, CTSC, AGT, MTOR, F8, BMP2, F10, GGCX, ALB, AKT1, TP53, CBL, RUNX2, LONP1, MMP1, DVL1, CFI, MASP1, IFNG, NEU1, TERT, GPX4, TRH, PRSS23, TGFBR1, DES, CTNS, APC, HTRA1, FKBP14, BMP4, COL1A2, HLA-C, ADA, IGF1, RB1, F13A1, SMAD4, HAMP, HSPG2, STAT3, HLA-DQA1, INS, HFE, MMP2

SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BRACHYDACTYLY, TYPE E2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ESTROGEN RESISTANCE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, OSSEOUS HETEROPLASIA, PROGRESSIVE, RENAL TUBULAR DYSGENESIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LEPRECHAUNISM, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SMITH-KINGSMORE SYNDROME

REN, IGF1R, AGT, MTOR, IGF1, ESR1, PTHLH, INS, GNAS, IGF2, PIK3R1, INSR

LYSYL HYDROXYLASE 3 DEFICIENCY, BASAL CELL NEVUS SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, VERHEIJ SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 46XY SEX REVERSAL 9, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, TARP SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, BLOOM SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, 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, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, WERNER SYNDROME, LIMB-MAMMARY SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PARIETAL FORAMINA 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, DEJERINE-SOTTAS DISEASE, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, KLEEFSTRA SYNDROME, COFFIN-SIRIS SYNDROME 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, AURICULOCONDYLAR SYNDROME 3, KABUKI SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, ?BARDET-BIEDL SYNDROME 11, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, CRANIOSYNOSTOSIS 4, SHPRINTZEN-GOLDBERG SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HAJDU-CHENEY SYNDROME, LIEBENBERG SYNDROME, WAARDENBURG SYNDROME, TYPE 3, 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, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, SECKEL SYNDROME 2, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SOTOS SYNDROME 1, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, FLOATING-HARBOR SYNDROME, RHEUMATOID ARTHRITIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OHDO SYNDROME, X-LINKED, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, INCONTINENTIA PIGMENTI, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE IA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COUSIN SYNDROME, PARIETAL FORAMINA 1, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HOLT-ORAM SYNDROME, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, BRACHYDACTYLY, TYPE A1, D, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 1, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, SPLIT-HAND/FOOT MALFORMATION 4, CHAR SYNDROME, CULLER-JONES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, TIMOTHY SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, HOLOPROSENCEPHALY-9, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, BALLER-GEROLD SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, PITUITARY DEPENDENT HYPERCORTISOLISM, JAWAD SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, COFFIN-SIRIS SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, BRACHYDACTYLY, TYPE E, GENITOPATELLAR SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, SYNDACTYLY, TYPE V, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MICROPHTHALMIA, SYNDROMIC 2, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, RETT SYNDROME, CONGENITAL VARIANT, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, SMITH-MAGENIS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LUJAN-FRYNS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, JACKSON-WEISS SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, 46,XX SEX REVERSAL, TYPE 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, BRANCHIOOCULOFACIAL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOPHOSPHATASIA, CHILDHOOD, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, IVIC SYNDROME, MYHRE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, ROUSSY-LEVY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CRANIOSYNOSTOSIS 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, DIGEORGE SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BANNAYAN-RILEY-RUVALCABA SYNDROME, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, DYSAUTONOMIA, FAMILIAL, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, CA2, PEX14, MMP2, PITX1, WNT5A, MED13L, SALL1, ACTB, IKBKG, LHX4, RAI1, SMARCA4, ALPL, TBX3, AGT, CDK5, OTX2, KDM1A, UBA1, EDN1, GJA1, TRIP4, KMT2A, FMR1, PTRH2, NR2F1, BCOR, PDLIM4, CDC6, TRIM32, BMP4, BMPER, TGFBR2, HNRNPA1, DLL4, HOXD13, CREBBP, POU1F1, GNAI2, RBPJ, SF3B4, PTEN, ACTA1, VRK1, GRIP1, ACVR1, KRAS, ERBB3, GLI2, LZTR1, IRF5, WRN, NOTCH1, MYCN, SMARCB1, CIITA, GATA2, FGFR1, CASK, TAF6, EGR2, MECP2, CFL2, FZD4, MSX2, COPA, PLOD3, SMARCE1, IKBKAP, NR1I3, RBM10, TRIP11, AIP, GLIS3, SOX9, EP300, TAF1, GLI3, THRB, ROR2, KCTD1, T, TSHB, GSC, RBBP8, TP63, ERCC8, TBX1, INS, KAT6B, SMC3, PAX8, GATA1, MED12, DDX3X, SLC35A2, SHOC2, SUFU, SMAD4, DVL3, CHAT, PAX2, LMX1B, STAT1, HDAC6, CHD7, PQBP1, BMP2, HNF4A, RAPSN, TUBB, BRCA1, FOXG1, AKT1, CCND2, SOX2, PRKDC, TBX5, VCP, TP53, UBE3A, NEFL, PEX19, ARID1B, HNRNPK, EZH2, TWIST1, SMC1A, HARS, ITCH, ZBTB16, HSPA9, EFNB1, NONO, TBX15, TFAP2A, MAF, KDM6A, DLX5, RUNX2, RB1, VDR, HESX1, ZFPM2, NGF, PRKCD, CHEK2, PAX3, ACTG1, BMPR1B, ASXL1, PMP22, TGFB1, PUF60, SRCAP, ERF, EHMT1, FGF10, NSD1, STAT3, CACNA1C, TCF4, RECQL4, NOTCH2, SMARCA2, TFAP2B, TAF2, BLM, DNMT1, ALX4, SALL4, THRA, PCNA, KMT2D, TBX6, SOX11, KAT6A, HRAS, HACE1, NHP2, SMAD3, ARID1A, ESR1, PIK3R1, SOX10, MTOR, SKI

BASAL CELL NEVUS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE A1, D, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, COCKAYNE SYNDROME, TYPE B, POPLITEAL PTERYGIUM SYNDROME 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, PARTINGTON SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, AYME-GRIPP SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COFFIN-SIRIS SYNDROME 3, LIMB-MAMMARY SYNDROME, OPITZ GBBB SYNDROME, TYPE II, STICKLER SYNDROME, TYPE I, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, PARIETAL FORAMINA 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, KLEEFSTRA SYNDROME, MUCKLE-WELLS SYNDROME, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MULTIPLE SYNOSTOSES SYNDROME 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, KABUKI SYNDROME 2, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, 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, RENAL CYSTS AND DIABETES SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ULNAR-MAMMARY SYNDROME, INCONTINENTIA PIGMENTI, LIEBENBERG SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, SYMPHALANGISM, PROXIMAL, 1A, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, CINCA SYNDROME, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, DYSKERATOSIS CONGENITA, X-LINKED, FRASER SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, HAND-FOOT-UTERUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, OHDO SYNDROME, X-LINKED, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, COFFIN-SIRIS SYNDROME 4, TARSAL-CARPAL COALITION SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, TUBEROUS SCLEROSIS 2, SYNDACTYLY, TYPE V, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COUSIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, PARIETAL FORAMINA 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, JACKSON-WEISS SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ROBINOW SYNDROME, HAY-WELLS SYNDROME, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, ?OSTEOGENESIS IMPERFECTA, TYPE XII, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, SPLIT-HAND/FOOT MALFORMATION 4, CHAR SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, CRANIOSYNOSTOSIS 3, EVEN-PLUS SYNDROME, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ?OTOFACIOCERVICAL SYNDROME 2, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CLEFT PALATE, ISOLATED, NESTOR-GUILLERMO PROGERIA SYNDROME, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SED CONGENITA, LAMB-SHAFFER SYNDROME, CORNELIA DE LANGE SYNDROME 4, DIGEORGE SYNDROME, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, BRITTLE CORNEA SYNDROME 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, APERT SYNDROME, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, GENITOPATELLAR SYNDROME, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 5, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, PROUD SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, IMAGE SYNDROME, LOEYS-DIETZ SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 5B, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OPITZ-KAVEGGIA SYNDROME, VELOCARDIOFACIAL SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, CEREBELLOFACIODENTAL SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, SMITH-MAGENIS SYNDROME, WILSON-TURNER SYNDROME, HOLT-ORAM SYNDROME, METACHONDROMATOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, CRANIOSYNOSTOSIS, TYPE 2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LUJAN-FRYNS SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, CAFFEY DISEASE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, BRANCHIOOCULOFACIAL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, IVIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, RENAL ADYSPLASIA, RETT SYNDROME, CONGENITAL VARIANT, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CRANIOSYNOSTOSIS 6, OSTEOGENESIS IMPERFECTA, TYPE XV, KLIPPEL-FEIL SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, BRACHYDACTYLY, TYPE E, PALLISTER-HALL SYNDROME, DEJERINE-SOTTAS DISEASE, CODAS SYNDROME, KABUKI SYNDROME 1, LEOPARD SYNDROME 1, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?FACIAL CLEFTING, OBLIQUE, 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, SMITH-KINGSMORE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, DLL4, F2, POLR1A, COL1A1, SALL1, RAD21, GATAD2B, IKBKG, G6PC, RAI1, SOX5, TBX3, AGT, HOXA13, ZIC1, OTX2, KDM1A, EDN1, BTK, WNT5A, TRIP4, UBB, NOG, EGR2, NDRG1, ITCH, BCOR, IKBKAP, PTRF, MMP1, ROBO3, WNK1, BMP4, CDC73, TGFBR2, HNRNPA1, SMAD4, MEOX1, HOXD13, CYP7B1, POU1F1, KMT2C, SPECC1L, GLI2, SMARCB1, PTCH1, SOX9, THRB, GRIP1, SOX2, KDM6A, ERBB3, LZTR1, MYH7, CREBBP, NME1, SP7, LONP1, IGF2, NOTCH1, DNMT3A, THRA, PTF1A, NR1I3, CIITA, GATA2, PITX1, TAF6, MECP2, MSX2, SMARCE1, COL2A1, APTX, MMP13, IFNG, STAT1, ICK, NR2F1, GLIS3, WNT1, EP300, TAF1, GLI3, RBPJ, TFAP2A, T, GSC, TP63, KMT2A, TBX1, INS, KAT6B, KAT6A, EZH2, PAX8, GATA1, MED12, BANF1, ALPL, DKC1, PAX1, SMARCA2, HNF1B, IGF1, CDK5, ARX, PAX2, ZNF335, HDAC6, CHD7, TUBB, HNF4A, BMP2, BRCA1, PTHLH, AKT1, CCND2, SMARCA4, PRKDC, FOXC2, TBX5, VCP, PRKCD, KARS, NONO, HNRNPK, IHH, TWIST1, POLD1, CDC6, CDKN1C, HSPA9, PTEN, TBX15, FGF9, HAMP, MAF, SOX10, DLX5, STAT3, RUNX2, RB1, VDR, HESX1, IRF5, TNFSF11, STX16, NGF, HDAC8, FRZB, CHEK2, PAX3, BMPR1B, FOXG1, TGFB1, FLNA, PTPN11, KMT2D, BRF1, FGF10, NSD1, NLRP3, TCF4, RBMX, TAF2, TFAP2B, TP53, DNMT1, FGFR2, ALX4, SALL4, NKX3-2, PCNA, TRH, ERCC6, RET, IRF6, TBX6, SUFU, SOX11, CRB2, HACE1, SFTPC, SMAD3, TERT, PEX2, ESR1, SKI, TINF2, PRDM5, MTOR, PIK3R1

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, STAR SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, CAMURATI-ENGELMANN DISEASE, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, BLOOM SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, AURICULOCONDYLAR SYNDROME 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITT-HOPKINS SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ULNAR-MAMMARY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, OCULODENTODIGITAL DYSPLASIA, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, PARASTREMMATIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, INCONTINENTIA PIGMENTI, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, BEHR SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, STICKLER SYNDROME, TYPE I, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, ?MICROHYDRANENCEPHALY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, PAPILLORENAL SYNDROME, ?DYSTONIA 23, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NOONAN SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, OTOPALATODIGITAL SYNDROME, TYPE I, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SECKEL SYNDROME 5, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, COWDEN SYNDROME 7, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MASA SYNDROME, CRASH SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, ?SECKEL SYNDROME 4, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRAGILE X SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, SED, MAROTEAUX TYPE, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, BLAU SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, WOLCOTT-RALLISON SYNDROME, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, PAGET DISEASE OF BONE 3, NOONAN SYNDROME 7, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, ESTROGEN RESISTANCE, PITUITARY DEPENDENT HYPERCORTISOLISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CAUDAL REGRESSION SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, FAM58A, EDNRA, WNT5A, HSPB1, SALL1, PRKACA, ACTB, IGBP1, IKBKG, CACNA1B, RPL5, TBX3, AGT, CDK5, SOX2, PRKAR1A, VANGL1, BTK, STK11, CBL, FMR1, ITGA3, BMP4, NPR2, CDC6, PROK2, DNM2, DOK7, PIK3CA, WNK1, EFEMP2, TGFBR2, PDGFRB, CREBBP, GNAI2, RBPJ, FBXO7, MUSK, SOX9, ATRX, GRIP1, LRP6, NDE1, MEGF10, MAP2K2, LZTR1, ADCY6, NME1, WRN, SQSTM1, NOTCH1, MAPT, TPM3, KIF5A, CHRM3, GHR, CEP152, ESR1, DSP, COL2A1, MET, AP2S1, ICK, KIT, TALDO1, TGFBR1, EP300, TGFB3, TAF1, TMEM173, EFTUD2, ZBTB16, SF3B4, GSC, OPA1, RPS6KA3, AP4B1, STAT3, DUSP6, SEC23B, INS, SNAP25, GATA1, CAV3, GJA1, SUFU, SMAD4, AGTR1, DVL3, PAX2, STAT1, HDAC6, NEFH, CASR, CTDP1, DMD, USP9X, CEP164, HRAS, BRCA1, AKT1, CCND2, SMARCA4, VDR, DVL1, PRKCD, TP53, UBE3A, EZH2, EDN1, PSTPIP1, TTN, RPS19, RIPK4, PTEN, TRPV4, NOD2, DYNC1H1, NR2F1, CENPJ, ITCH, IRF5, FLNA, MYH11, SMARCB1, HINT1, CHEK2, SLC12A6, IL10, PRKCSH, TGFB1, PTRF, PTPN11, EIF2AK3, WAS, TBCE, TCF4, AP4M1, SOS1, BLM, BRAF, RB1, CRYAB, L1CAM, PCNA, TRH, MECP2, APC, SMC3, F10, HACE1, LRP2, SMAD3, TERT, ATR, TSC1, SKI, TINF2, MTOR, PIK3R1

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, STAR SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, CAMURATI-ENGELMANN DISEASE, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIAMOND-BLACKFAN ANEMIA 6, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, AURICULOCONDYLAR SYNDROME 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITT-HOPKINS SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, ULNAR-MAMMARY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, OCULODENTODIGITAL DYSPLASIA, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PARASTREMMATIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, INCONTINENTIA PIGMENTI, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, BEHR SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, STICKLER SYNDROME, TYPE I, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, ?MICROHYDRANENCEPHALY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, LOEYS-DIETZ SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SECKEL SYNDROME 5, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, COWDEN SYNDROME 7, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MASA SYNDROME, CRASH SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, WIEDEMANN-STEINER SYNDROME, ?SECKEL SYNDROME 4, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRAGILE X SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, SED, MAROTEAUX TYPE, ?DYSTONIA 23, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, POLYCYSTIC LIVER DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, BLAU SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, WOLCOTT-RALLISON SYNDROME, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, PAGET DISEASE OF BONE 3, NOONAN SYNDROME 7, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, ESTROGEN RESISTANCE, KENNY-CAFFEY SYNDROME, TYPE 1, PITUITARY DEPENDENT HYPERCORTISOLISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CAUDAL REGRESSION SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, DIAMOND-BLACKFAN ANEMIA 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, FAM58A, EDNRA, WNT5A, HSPB1, SALL1, TBCE, ACTB, IGBP1, IKBKG, CACNA1B, SMARCA4, RPL5, TBX3, AGT, CDK5, PRKAR1A, VANGL1, KMT2A, BTK, STK11, CBL, FMR1, ITGA3, BMP4, NPR2, CDC6, PROK2, DNM2, DOK7, PIK3CA, WNK1, EFEMP2, TGFBR2, PDGFRB, CREBBP, GNAI2, RBPJ, FBXO7, MUSK, SOX9, NF2, ATRX, GRIP1, LRP6, KRAS, MEGF10, MAP2K2, LZTR1, ADCY6, NME1, WRN, SQSTM1, NOTCH1, MAPT, TPM3, KIF5A, CHRM3, TAF6, PAX2, COPA, CEP152, ESR1, DSP, COL2A1, MET, AP2S1, ICK, KIT, TALDO1, TGFBR1, EP300, TGFB3, TAF1, TMEM173, ZBTB16, SF3B4, GSC, PCNA, RPS6KA3, AP4B1, STAT3, DUSP6, SEC23B, INS, SNAP25, GATA1, CAV3, PFKM, GJA1, SUFU, SMAD4, AGTR1, DVL3, GHR, STAT1, HDAC6, NEFH, CASR, CTDP1, DMD, USP9X, CEP164, HRAS, BRCA1, NDE1, AKT1, CCND2, SOX2, VDR, DVL1, PRKCD, TP53, UBE3A, EZH2, EDN1, PSTPIP1, TTN, RPS19, RIPK4, PTEN, TRPV4, PTPN22, NOD2, EIF4A3, DYNC1H1, NR2F1, CENPJ, ITCH, PRKDC, IRF5, FLNA, MYH11, SMARCB1, HINT1, CHEK2, SLC12A6, IL10, PRKCSH, TGFB1, PTRF, PTPN11, OPA1, TNFAIP3, EIF2AK3, WAS, PRKACA, TCF4, AP4M1, SOS1, BLM, BRAF, RB1, CRYAB, L1CAM, STRADA, TRH, MECP2, APC, SMC3, F10, HACE1, LRP2, ITGA7, SMAD3, TERT, ATR, TSC1, SKI, TINF2, MTOR, PIK3R1

LOEYS-DIETZ SYNDROME 1, BARAITSER-WINTER SYNDROME 1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, CORNELIA DE LANGE SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT SYNDROME, OCULOECTODERMAL SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WIEDEMANN-STEINER SYNDROME, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, WOLCOTT-RALLISON SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, METACHONDROMATOSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, LOEYS-DIETZ SYNDROME 2, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, CRANIOLENTICULOSUTURAL DYSPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, MEIER-GORLIN SYNDROME 5, LEOPARD SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COFFIN-SIRIS SYNDROME 4, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SHOC2, DNM2, SMARCA4, PRKCD, ACTG1, ACTB, AKT1, PTPN11, AP3B1, TPM3, GCK, WAS, CDK5, MTOR, SMC1A, KRAS, INPPL1, SOS1, B2M, VCP, MET, TP53, TERT, TGFBR1, SEC23A, CDC6, HRAS, ITCH, EIF2AK3, USP8, ANKLE2, MYH11, STAT3, PSTPIP1, INS, SMC3, TGFBR2, PIK3R1

BARAITSER-WINTER SYNDROME 1, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, BARAITSER-WINTER SYNDROME 2, CAFFEY DISEASE, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PITUITARY ADENOMA, ACTH-SECRETING, MEIER-GORLIN SYNDROME 5, IMMUNODEFICIENCY 43, HAIM-MUNK SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, MICROPHTHALMIA, SYNDROMIC 6, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, TARSAL-CARPAL COALITION SYNDROME, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, HERMANSKY-PUDLAK SYNDROME 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SYMPHALANGISM, PROXIMAL, 1A, COFFIN-SIRIS SYNDROME 4, OSTEOGENESIS IMPERFECTA, TYPE I, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NOONAN SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CRANIOLENTICULOSUTURAL DYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BRACHYDACTYLY, TYPE B2, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, WOLCOTT-RALLISON SYNDROME, METACHONDROMATOSIS, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, DIAMOND-BLACKFAN ANEMIA 7, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, TSC2, NF2, SEC23A, MYH11, SMARCA4, GJA1, PRKCD, SHOC2, COL1A1, SMAD4, ACTG1, CDK5, SBF2, SMC3, TGFBR1, PTPN11, CREBBP, ANKLE2, KRAS, VCP, AP3B1, TPM3, GCK, WAS, PRKACA, MET, HRAS, MTOR, CDC6, BIN1, INPPL1, SOS1, B2M, CTSC, NOG, KARS, RPL11, PSTPIP1, L1CAM, INS, DNM2, PIK3CA, TP53, AKT1, WNK1, BMP4, MTMR2, ITCH, EZH2, EIF2AK3, ERCC2, HNRNPA1, ACTB, USP8, SMC1A, SMAD3, TERT, SLC9A3R1, STAT3, TGFBR2, DYNC1H1, GJB1, PTEN, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DANON DISEASE, DYSAUTONOMIA, FAMILIAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, RENAL TUBULAR DYSGENESIS, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, EIKEN SYNDROME, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HAY-WELLS SYNDROME, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, KEPPEN-LUBINSKY SYNDROME, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, BRACHYDACTYLY, TYPE E2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MECKEL SYNDROME 12, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, OPITZ-KAVEGGIA SYNDROME, OPSISMODYSPLASIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, OGDEN SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, ?SECKEL SYNDROME 4, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, EXUDATIVE VITREORETINOPATHY 1, GALACTOSIALIDOSIS, ?DYSTONIA 23, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, CHERUBISM, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ?MICROHYDRANENCEPHALY, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, SED, MAROTEAUX TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BRACHYOLMIA TYPE 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, CAFFEY DISEASE, BLAU SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 4, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FAMILIAL MEDITERRANEAN FEVER, AR, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, VELOCARDIOFACIAL SYNDROME, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CAUDAL REGRESSION SYNDROME, TARSAL-CARPAL COALITION SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, BEHR SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SYMPHALANGISM, PROXIMAL, 1A, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CLEFT PALATE, ISOLATED, [BONE MINERAL DENSITY VARIABILITY 1], LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIGEORGE SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OHDO SYNDROME, X-LINKED, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?PRUNE BELLY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, SECKEL SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ADULT SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, KLIPPEL-FEIL SYNDROME 2, GENITOPATELLAR SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, LEOPARD SYNDROME 1, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, WAARDENBURG SYNDROME, TYPE 3, METATROPIC DYSPLASIA, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, PARASTREMMATIC DWARFISM, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, GLUTAMINE DEFICIENCY, CONGENITAL, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, BRACHYDACTYLY, TYPE A1, D, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CORNELIA DE LANGE SYNDROME 3, BURN-MCKEOWN SYNDROME, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, CORNELIA DE LANGE SYNDROME 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, NEPHRONOPHTHISIS 15, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FAMILIAL MEDITERRANEAN FEVER, AD, 46,XX SEX REVERSAL, TYPE 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), LADD SYNDROME, PALLISTER-HALL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, COLE-CARPENTER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PSORIASIS 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PITUITARY DEPENDENT HYPERCORTISOLISM, LUJAN-FRYNS SYNDROME, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ADAMS-OLIVER SYNDROME 3, PITT-HOPKINS-LIKE SYNDROME 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, SPLIT-HAND/FOOT MALFORMATION 1, WEAVER SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?MICROPHTHALMIA, SYNDROMIC 1, OSTEOGENESIS IMPERFECTA, TYPE XIII, HYPERPARATHYROIDISM, NEONATAL, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, RENPENNING SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, VON WILLIBRAND DISEASE, TYPE 3, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, PAGET DISEASE OF BONE 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, SMITH-KINGSMORE SYNDROME