GROWTH

OSTEOGENESIS IMPERFECTA, TYPE I, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, CZECH DYSPLASIA, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, PSEUDOACHONDROPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE II, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, OSTEOGENESIS IMPERFECTA, TYPE XVII, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, STICKLER SYNDROME, TYPE I, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE IV, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PYCNODYSOSTOSIS, LEGG-CALVE-PERTHES DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE III, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

CCBE1, ACAN, BMP1, COL1A1, SMAD4, CTSK, TGFB1, NOS3, FLNA, AGT, STAT3, COL1A2, COL6A1, SERPINH1, DDR2, IL6, MMP13, COMP, SPARC, MMP1, HRAS, PDGFRB, MYH11, HSPG2, ANTXR1, COL7A1, COL2A1, INS, PIK3R1

LOEYS-DIETZ SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, RETT SYNDROME, CONGENITAL VARIANT, {AUTISM, SUSCEPTIBILITY TO, 18}, RENPENNING SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OPITZ-KAVEGGIA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, ANDROGEN INSENSITIVITY, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BRANCHIOOCULOFACIAL SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, WEAVER SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PANHYPOPITUITARISM, X-LINKED, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MOWAT-WILSON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, NICOLAIDES-BARAITSER SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, COUSIN SYNDROME, CORNELIA DE LANGE SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, WIEDEMANN-STEINER SYNDROME, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, HESX1, AR, PPARG, SMARCA4, SMARCA2, TFAP2A, POMC, DVL3, FOXG1, NOTCH1, STAT1, CHD8, RBBP8, PQBP1, POU1F1, SOX3, OTX2, NOTCH2, LHX3, AKT1, SOX2, PPARGC1B, ESR1, KMT2A, CREBBP, IL6, MED12, SMAD4, SIX3, MED17, HNF4A, EZH2, TBX6, SOX11, ITCH, TGFBR2, ZEB2, TBX15, NKX2-5, BMPR1B, STAT3, SHH, DLX5, INS, RUNX2, PIK3R1

REVESZ SYNDROME, VERHEIJ SYNDROME, IMMUNODEFICIENCY 15, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BARAITSER-WINTER SYNDROME 1, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KOWARSKI SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, COCKAYNE SYNDROME, TYPE A, CZECH DYSPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, WILSON-TURNER SYNDROME, GLASS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ADENYLOSUCCINASE DEFICIENCY, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MENTAL RETARDATION, X-LINKED 45, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, PRIMROSE SYNDROME, MELNICK-NEEDLES SYNDROME, ATELEIOTIC DWARFISM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PANHYPOPITUITARISM, X-LINKED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, EVEN-PLUS SYNDROME, HUTCHINSON-GILFORD PROGERIA, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, LOEYS-DIETZ SYNDROME 2, OHDO SYNDROME, X-LINKED, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, HYPOPHOSPHATASIA, INFANTILE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OTOPALATODIGITAL SYNDROME, TYPE II, KLEEFSTRA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LARON DWARFISM, KABUKI SYNDROME 2, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, CATSHL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, WIEDEMANN-STEINER SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, {AUTISM, SUSCEPTIBILITY TO, 18}, ?OSTEOGENESIS IMPERFECTA, TYPE XII, RENPENNING SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, OSTEOGENESIS IMPERFECTA, TYPE IV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ISCHIOCOXOPODOPATELLAR SYNDROME, INCONTINENTIA PIGMENTI, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, OCULOECTODERMAL SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PROUD SYNDROME, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?ABRUZZO-ERICKSON SYNDROME, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, SECKEL SYNDROME 2, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, DYSKERATOSIS CONGENITA, X-LINKED, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, DIAMOND-BLACKFAN ANEMIA 9, SHORT SYNDROME, ANGELMAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, STRIATONIGRAL DEGENERATION, INFANTILE, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CORNELIA DE LANGE SYNDROME 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, KOOLEN-DE VRIES SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, BRACHYDACTYLY, TYPE E, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRACHYDACTYLY, TYPE A1, BRACHYDACTYLY, TYPE D, PSEUDOHYPOPARATHYROIDISM IA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, PANCREATIC AGENESIS 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, CULLER-JONES SYNDROME, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NESTOR-GUILLERMO PROGERIA SYNDROME, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ARTHROGRYPOSIS, DISTAL, TYPE 8, CORNELIA DE LANGE SYNDROME 4, DIGEORGE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PRADER-WILLI SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, BRACHYDACTYLY, TYPE E2, COFFIN-SIRIS SYNDROME 4, ?WEBB-DATTANI SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, LANGER MESOMELIC DYSPLASIA, SED CONGENITA, BOHRING-OPITZ SYNDROME, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, TARSAL-CARPAL COALITION SYNDROME, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, APERT SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, GROWTH HORMONE INSENSITIVITY, PARTIAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, AMYOTROPHY, HEREDITARY NEURALGIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ?MICROPHTHALMIA, SYNDROMIC 11, CORNELIA DE LANGE SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CORNELIA DE LANGE SYNDROME 5, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ENCEPHALOPATHY, NEONATAL SEVERE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, COUSIN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, IMAGE SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, COFFIN-SIRIS SYNDROME 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, VELOCARDIOFACIAL SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, DE SANCTIS-CACCHIONE SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PANCREATIC AGENESIS 2, RESTRICTIVE DERMOPATHY, LETHAL, DIABETES INSIPIDUS, NEPHROGENIC, SOTOS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, WARBURG MICRO SYNDROME 1, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 12, ABCD SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LERI-WEILL DYSCHONDROSTEOSIS, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, MARSHALL-SMITH SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, XERODERMA PIGMENTOSUM, GROUP B, CHOPS SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, KABUKI SYNDROME 1, LEOPARD SYNDROME 1, MEIER-GORLIN SYNDROME 5, LOEYS-DIETZ SYNDROME 1, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, LUJAN-FRYNS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, SLC34A1, BRCA2, EZH2, POLR1A, UCP1, PLAGL1, VAX1, RAD21, SOX3, ACTB, TBX22, GNAS, MYT1L, IKBKG, GLI3, BMPR1A, RPL5, KLF1, ALDOA, TBX3, AGT, TBX15, SEPT9, PPARG, LEP, OTX2, DKC1, KDM1A, CDC6, BTK, PROP1, WNT5A, ZEB2, HCFC1, KMT2A, AKT2, ZBTB20, NOG, SIX3, ERCC6, ARX, PTRF, SIM1, COL1A1, SMARCA4, G6PC, NBN, RFXAP, NEUROG3, EFEMP2, BMPER, ERCC2, TGFBR2, SMAD4, HOXD13, CREBBP, POU1F1, COL2A1, SF3B4, GLI2, NKX3-2, SMARCB1, ACTA1, SOX9, ATRX, CHD7, GH1, KRAS, RBM8A, CASP8, KMT2C, NKX2-5, MYH7, CYP7B1, NME1, SP7, IGF2, CD79A, NOS3, CYP11B2, DNMT3A, THRA, PTF1A, BUB1B, CIITA, SKIV2L, MYH3, TAF6, LMNA, GHR, LHX3, AFF4, CBL, SMARCE1, IKBKAP, NR1I3, MMP13, NR0B1, FBN2, EFTUD2, VPS33B, AIP, ZIC3, GLIS3, WNT1, ZNF81, HDAC6, TAF1, ROR2, VDR, TFAP2A, ALPL, RPS10, CASR, ZBTB16, TNNT2, NR3C2, GSC, SMC1A, IRF8, RPS6KA3, RBBP8, STAT3, ERCC8, ARNT2, TBX1, NOTCH1, SLC26A3, KAT6A, ACD, PAX8, GATA1, MECP2, BANF1, DDX3X, AGL, MYO5B, GJA1, SMARCA2, HNF1B, IGF1, HNF4A, DVL3, SMAD9, TBX6, KIF2A, LMX1B, PPP2R1A, RAB3GAP1, TGFB3, FLNA, MCPH1, PQBP1, NUP62, NFIX, HRAS, BRCA1, MTOR, NDN, PTHLH, AKT1, SOX2, KANSL1, PRKDC, ADSL, FOXP1, IGF1R, TINF2, DIAPH1, NONO, SLC25A4, IKBKB, IHH, TWIST1, PHC1, CDKN1C, HSPA9, PTEN, FGFR3, LZTR1, POMC, MAF, CFTR, KDM6A, DLX5, RUNX2, OCLN, CHD8, PCSK1, HESX1, AR, SLC2A1, MYH11, POLR3A, HDAC8, SHOX, BMPR1B, ASXL1, DHCR7, AQP2, PUF60, TGFB1, FOXG1, PTPN11, ATM, GATA6, KMT2D, DDX58, NSD1, STAT1, TP63, VPS11, RFX5, RBMX, TRPS1, RFXANK, SOS1, MED12, PPARGC1B, PDGFRB, ITCH, FGFR2, NDUFA10, IL6, RPL11, GPX4, INS, PCNA, TRH, DVL1, RET, ERCC3, CTCF, SOX11, EDNRB, HACE1, EGFR, WNT4, DNMT3B, SFTPC, PDX1, POLR3B, NR0B2, ZBTB18, ALB, HSPG2, ESR1, SHH, TRIM37, MMP1, SATB2, TBX4, PIK3R1

D-BIFUNCTIONAL PROTEIN DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, PERRAULT SYNDROME 1, ?FANCONI RENOTUBULAR SYNDROME 3, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

HADHB, HSD17B4, HADHA, EHHADH, HADH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, DIHYDROPYRIMIDINURIA, GALACTOSE EPIMERASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CAMURATI-ENGELMANN DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, FOLATE MALABSORPTION, HEREDITARY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, DIAMOND-BLACKFAN ANEMIA 9, RESTRICTIVE DERMOPATHY, LETHAL, HUTCHINSON-GILFORD PROGERIA, MACROCEPHALY/AUTISM SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NICOLAIDES-BARAITSER SYNDROME, CITRULLINEMIA, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MANDIBULOACRAL DYSPLASIA, GLYCOGEN STORAGE DISEASE XII, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, SMITH-KINGSMORE SYNDROME, TYROSINEMIA, TYPE II, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, JOHANSON-BLIZZARD SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

OTC, KIF5C, LMNA, YARS2, GJA1, SMARCA2, FTCD, SLC46A1, IGF1, PTRF, TGFB1, NOS3, GCH1, GPX4, ALDOA, AGT, CBS, MTOR, MT-CO2, LEP, UBR1, AKT1, DPYS, GALE, PRKDC, IGF1R, MUT, ASS1, AARS, TAT, PCNA, SUCLA2, IL6, HRAS, EGFR, RPS10, PTEN, NR0B2, QDPR, ALB, SNAP29, CPS1, INS, DHFR, PEX5

?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 3, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, INTERSTITIAL LUNG AND LIVER DISEASE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MYHRE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

AARS, RARS2, IARS2, EARS2, CARS2, FARS2, AIMP1, NARS2, AARS2, SMAD4, SARS2, MARS2, YARS2, LARS, MARS, CPS1

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BARTTER SYNDROME, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, MELNICK-NEEDLES SYNDROME, WATSON 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, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, METATROPIC DYSPLASIA, ABCD SYNDROME, BARDET-BIEDL SYNDROME 3, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, CZECH DYSPLASIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARDET-BIEDL SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BARDET-BIEDL SYNDROME 7, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEPRECHAUNISM, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, FRANK-TER HAAR SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, OPSISMODYSPLASIA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, NIEMANN-PICK DISEASE, TYPE A, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, OTOPALATODIGITAL SYNDROME, TYPE I, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MARINESCO-SJOGREN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, PARASTREMMATIC DWARFISM, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?IMMUNODEFICIENCY 22, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, BARDET-BIEDL SYNDROME 5, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, 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, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OMENN SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MYHRE SYNDROME, LEGG-CALVE-PERTHES DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BRACHYOLMIA TYPE 3, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NF1, KMT2A, ACTB, PIGT, RPL5, SNX10, TBX3, AGT, PPARG, BBS4, PCYT1A, SMPD1, BTK, TERT, DNM2, PIK3CA, ASPM, BBS2, TGFBR2, SMAD4, CREBBP, COL2A1, PDGFRB, ACTA1, SOX9, CHD7, TRPV4, CASP8, QDPR, NME1, CD79A, NOTCH2, MTOR, SCNN1A, GTPBP3, CBL, IKBKAP, KCNJ1, GLIS3, TGFBR1, ARL6, RAG2, ATP8B1, AP4B1, TP63, ACD, OTC, ALDOA, GJA1, IGF1, DVL3, RAPSN, STAT1, HDAC6, LRP5, CASR, NUP62, PPP2R1A, HRAS, AKT1, ITPR2, PRKDC, LRP2, IKBKB, DCTN1, SNCA, ITCH, SIL1, RPS7, ECHS1, MUSK, POMC, SNAP29, AMER1, INPPL1, MTM1, LCK, BBS5, FLNA, BBS7, NOS3, PTRF, TGFB1, PTPN11, AHCY, PCLO, STAT3, MAP3K1, INSR, PKLR, SOS1, CPS1, IL6, DOK7, L1CAM, INS, PCNA, KCNJ2, PTEN, EDNRB, EGFR, POLR3B, NR0B2, SH3PXD2B, ALB, HSPG2, ESR1, CASK, PIK3R1

BARAITSER-WINTER SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION, X-LINKED 102, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PANHYPOPITUITARISM, X-LINKED, DYSAUTONOMIA, FAMILIAL, KLEEFSTRA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, ATAXIA-TELANGIECTASIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, LUJAN-FRYNS SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, COFFIN-SIRIS SYNDROME 3, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, FLOATING-HARBOR SYNDROME, OHDO SYNDROME, X-LINKED, ACHONDROGENESIS, TYPE IA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, WEAVER SYNDROME, EVEN-PLUS SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ?BARDET-BIEDL SYNDROME 11, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, WIEDEMANN-STEINER SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, NICOLAIDES-BARAITSER SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CORNELIA DE LANGE SYNDROME 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ENCEPHALOPATHY, NEONATAL SEVERE, BRACHYDACTYLY, TYPE E, APPARENT MINERALOCORTICOID EXCESS, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, 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, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, BRANCHIOOCULOFACIAL SYNDROME, MYHRE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, XERODERMA PIGMENTOSUM, GROUP B, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, BRACHYDACTYLY, TYPE D, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

DYRK1B, CD3D, ACTB, IKBKG, TWIST1, AGT, PPARG, KDM1A, CDC6, KMT2A, AKT2, TRIM32, NEUROG3, CREBBP, POU1F1, SOX2, SF3B4, HOXD13, ACTA1, SMARCA2, SMARCA4, CASP8, NKX2-5, POMC, AR, NOS3, THRA, ERCC3, CIITA, MTOR, SOX3, TAF6, LHX3, RFXAP, SMARCE1, IKBKAP, NR1I3, TAF1, TFAP2A, STAT3, INS, KAT6A, PAX8, GATA1, DDX3X, GJA1, SOX9, SMAD4, MECP2, RAPSN, HDAC6, PQBP1, HNF4A, PPP2R1A, HSD11B2, AKT1, TRIP11, VDR, BRCA1, MED12, UBE3A, MED17, ARID1B, EZH2, GLI3, ERCC8, ITCH, HSPA9, PTEN, LZTR1, ABCB11, DLX5, RUNX2, AIP, SMARCB1, ARID1A, ASXL1, SRCAP, ATM, KMT2D, MAP3K1, NOTCH1, PPARGC1B, IL6, PUS1, HCFC1, SOX11, HRAS, HACE1, NR0B2, BMPR1B, ESR1, SHH

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, VERHEIJ SYNDROME, BARAITSER-WINTER SYNDROME 1, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, LUJAN-FRYNS SYNDROME, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, PANHYPOPITUITARISM, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, DYSAUTONOMIA, FAMILIAL, OHDO SYNDROME, X-LINKED, KLEEFSTRA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, KABUKI SYNDROME 2, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, WIEDEMANN-STEINER SYNDROME, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, {AUTISM, SUSCEPTIBILITY TO, 18}, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, SECKEL SYNDROME 2, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, SOTOS SYNDROME 1, VELOCARDIOFACIAL SYNDROME, COFFIN-SIRIS SYNDROME 3, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, FLOATING-HARBOR SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CORNELIA DE LANGE SYNDROME 2, ACHONDROGENESIS, TYPE IA, COUSIN SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LYSYL HYDROXYLASE 3 DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CULLER-JONES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WEAVER SYNDROME, EVEN-PLUS SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OCULOECTODERMAL SYNDROME, DIGEORGE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, COFFIN-SIRIS SYNDROME 4, BALLER-GEROLD SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, BOHRING-OPITZ SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, COFFIN-SIRIS SYNDROME 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MICROPHTHALMIA, SYNDROMIC 2, CORNELIA DE LANGE SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, BRACHYDACTYLY, TYPE E, APPARENT MINERALOCORTICOID EXCESS, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, BRANCHIOOCULOFACIAL SYNDROME, TARP SYNDROME, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, XERODERMA PIGMENTOSUM, GROUP B, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, BRACHYDACTYLY, TYPE D, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, DYRK1B, CD3D, ACTB, IKBKG, TWIST1, BMPR1A, SMARCA4, TBX3, AGT, PPARG, OTX2, KDM1A, RECQL4, WNT5A, KDM6A, KMT2A, AKT2, CHD8, PTRH2, BCOR, CDC6, TRIM32, NEUROG3, BMPER, WNT4, CREBBP, POU1F1, BLM, IKBKAP, SF3B4, PTEN, ACTA1, SHOC2, CHD7, KRAS, GLI2, CASP8, NKX2-5, POMC, AR, WRN, NOS3, THRA, ERCC3, CIITA, MTOR, PLOD3, SOX3, TAF6, LHX3, RFXAP, SMARCE1, NR1I3, NR0B1, RBM10, TRIP11, AIP, GLIS3, TAF1, GLI3, RUNX2, ROR2, TFAP2A, ZBTB16, GSC, SMC1A, HCFC1, RBBP8, STAT3, ERCC8, TBX1, NOTCH1, INS, KAT6A, PAX8, GATA1, DDX3X, GJA1, SOX9, SMAD4, CTCF, MECP2, LMX1B, RAPSN, HDAC6, PQBP1, HNF4A, PPP2R1A, BRCA1, AKT1, SOX2, TRAC, VDR, HSD11B2, LRPPRC, MED12, NONO, UBE3A, PEX19, ARID1B, EZH2, LHX4, PHC1, ITCH, TSHB, HSPA9, EFNB1, HOXD13, TBX15, LZTR1, ABCB11, MAF, DLX5, EHMT1, LCK, PRKDC, SLC2A1, SMARCB1, PPP2R5D, BMPR1B, ASXL1, PUF60, TGFB1, FOXG1, RFXANK, ATM, KMT2D, KLF1, VRK1, NSD1, MAP3K1, SRCAP, SMARCA2, PPARGC1B, IL6, PUS1, SLC26A3, PCNA, TBX6, SOX11, HRAS, HACE1, MED17, EGFR, DNMT3B, NHP2, NR0B2, ARID1A, ESR1, PIK3R1, CASK, SHH

VERHEIJ SYNDROME, REVESZ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SECKEL SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUTARICACIDURIA, TYPE I, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, CATSHL SYNDROME, DYSAUTONOMIA, FAMILIAL, MOLYBDENUM COFACTOR DEFICIENCY A, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MANDIBULOACRAL DYSPLASIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, WARSAW BREAKAGE SYNDROME, COFFIN-LOWRY SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ACHONDROPLASIA, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, MICROVILLUS INCLUSION DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, CITRULLINEMIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ACETYL-COA CARBOXYLASE DEFICIENCY, CARPENTER SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TRIFUNCTIONAL PROTEIN DEFICIENCY, BRACHYDACTYLY, TYPE E2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MECKEL SYNDROME 12, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 6, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MUENKE SYNDROME, OPITZ-KAVEGGIA SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, SENGERS SYNDROME, MEIER-GORLIN SYNDROME 2, BARTTER SYNDROME, TYPE 4B, DIGENIC, ?AL-GAZALI-BAKALINOVA SYNDROME, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OGDEN SYNDROME, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, BRACHYDACTYLY, TYPE E, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEBER CONGENITAL AMAUROSIS 1, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MENTAL RETARDATION, X-LINKED 72, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, CORPUS CALLOSUM AGENESIS, SACCHAROPINURIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, TARP SYNDROME, OVARIAN DYSGENESIS 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), XERODERMA PIGMENTOSUM, GROUP B, BRACHYOLMIA TYPE 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE VI, PERRAULT SYNDROME 1, BARTH SYNDROME, ATELOSTEOGENESIS, TYPE I, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, ARTHROGRYPOSIS, DISTAL, TYPE 8, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FUMARASE DEFICIENCY, PROPIONICACIDEMIA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, SESAME SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MENTAL RETARDATION, X-LINKED 12/35, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, {AUTISM, SUSCEPTIBILITY TO, 18}, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FOLATE MALABSORPTION, HEREDITARY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY, CONGENITAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, CINCA SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, NOONAN SYNDROME 9, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, COFFIN-SIRIS SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OPSISMODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NOONAN SYNDROME 8, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NEPHROTIC SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, NOONAN SYNDROME 10, GLYCEROL KINASE DEFICIENCY, HYPERTENSION AND BRACHYDACTYLY SYNDROME, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, ALAZAMI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, HYPOCHONDROPLASIA, NEU-LAXOVA SYNDROME 1, APPARENT MINERALOCORTICOID EXCESS, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ASPARAGINE SYNTHETASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 7, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, OMENN SYNDROME, BARDET-BIEDL SYNDROME 10, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, COCKAYNE SYNDROME, TYPE B, GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, ?LICHTENSTEIN-KNORR SYNDROME, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DENT DISEASE, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ?BARDET-BIEDL SYNDROME 19, AMYOTROPHY, HEREDITARY NEURALGIC, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, SADDAN, DIAMOND-BLACKFAN ANEMIA 9, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, BOOMERANG DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GALACTOSEMIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, DIAMOND-BLACKFAN ANEMIA 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OHDO SYNDROME, X-LINKED, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), ?PRECOCIOUS PUBERTY, CENTRAL, 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OSTEOGENESIS IMPERFECTA, TYPE IX, GLYCOGEN STORAGE DISEASE IXC, COFFIN-SIRIS SYNDROME 4, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, NEPHRONOPHTHISIS 15, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, D-GLYCERIC ACIDURIA, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, ?SECKEL SYNDROME 8, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYHRE SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OROFACIODIGITAL SYNDROME I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPOPHOSPHATEMIC RICKETS, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?JOUBERT SYNDROME 22, FANCONI ANEMIA, COMPLEMENTATION GROUP T, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, BRACHYDACTYLY, TYPE D, LEUKODYSTROPHY, HYPOMYELINATING, 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, STAR SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, ATELEIOTIC DWARFISM, INTERSTITIAL LUNG AND LIVER DISEASE, ZIMMERMANN-LABAND SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, PYRUVATE KINASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, BRUCK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ROTHMUND-THOMSON SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PANCREATIC AGENESIS 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, HOLOPROSENCEPHALY-9, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BARDET-BIEDL SYNDROME 12, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SECKEL SYNDROME 5, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, PARASTREMMATIC DWARFISM, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, 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, GLUCOCORTICOID DEFICIENCY 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CODAS SYNDROME, KABUKI SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, SMITH-KINGSMORE SYNDROME

CA2, PLOD3, PDE4D, ACADS, GNAS, CIITA, BMPR1A, RPL5, RBBP8, PCYT1A, CDC6, GLYCTK, AKT2, CHD8, KIF7, PTRH2, RAD51C, FH, H6PD, FAM58A, PNPO, ARSE, POR, CYB5R3, CREBBP, EFNB1, MYO18B, DYNC2H1, AQP2, PHKB, ATRX, TRPV4, SOX2, PHKA2, AR, LONP1, CD79A, THRA, BUB1B, MTOR, BLK, TAF6, CBL, SMARCE1, KCNJ1, SUCLA2, PAPSS2, MKKS, ROR2, ABCD4, NDUFA1, TNNT2, GPD1, ENPP1, TRAPPC9, NDUFA10, SEPT9, GATA1, BANF1, AGL, DDR2, PRPS1, NRAS, SMAD4, DVL3, CEP290, TPM2, HDAC6, IARS2, CTDP1, NARS2, PPP2R1A, AKT1, RIPK4, INPPL1, AIP, PPIB, LRPPRC, UBE3A, LARP7, EZH2, RECQL4, ARL6, HSPA9, GNE, MMAA, XRCC4, POMC, NOD2, ADK, POLA1, CUL4B, ASNS, FGF23, SLC9A1, BBS7, SLC46A1, PIK3R2, SEC23A, PTPN11, MAPRE2, IFT27, PHKG2, HADHB, VPS11, SRCAP, PCCA, RAB40AL, CLCNKB, SNRPB, ERCC6, EGFR, DHCR24, POLR3B, TERT, PEX5, NDUFS2, AGK, WNT5A, MMP1, NAA10, MT-CO2, ACTB, SEMA3E, MOCS2, COL1A2, DGUOK, ALPL, AP4B1, PCCB, PDE11A, MCCC2, MYH7, HADH, ASPM, NPR2, TRNT1, CDT1, NBN, PCNT, BBS2, MYH3, AARS2, IL2RG, CLP1, KIF1A, OCRL, SOX9, SPR, MAP2K2, CLCNKA, GUCY2D, SP7, PYGL, NOTCH1, ERCC3, CBS, FGFR1, EXOSC8, KIF5C, GK, EARS2, RBM10, VPS33B, NLRC4, FANCA, RAB18, NLRP5, STAT3, UPF3B, FANCD2, BRAF, KAT6A, NIN, SOS2, ORC4, BBS12, DPH1, UBE2A, MMAB, IGF1, SMAD9, KIF2A, TAZ, AASS, UBE2T, HSD11B2, PYCR2, SMC1A, GBE1, VDR, DVL1, MUT, COQ9, CDK5RAP2, ITPA, LRP2, IKBKB, CASP8, LHX4, BSND, SARS2, NF1, FARS2, LZTR1, ABCB11, TUBB4A, DHODH, NDUFV1, OTC, PEX1, VPS45, DYRK1A, AIMP1, PPP2R5D, JAGN1, KCNJ10, KIF22, PIP5K1C, KMT2D, DDX58, EIF2AK3, PCLO, STAT1, MAP3K1, SLC34A1, BLM, TINF2, IL6, PIK3R1, OFD1, PCNA, DHFR, MED17, ARL13B, ALDH18A1, ESR1, HPGD, C10orf2, SKIV2L, PDX1, DYRK1B, ADRB2, RAD21, IFIH1, IGBP1, IKBKG, PEX6, EFTUD2, ATP6V1B2, AGT, VPS53, LEP, TRAPPC2, KDM1A, SNCA, RBMX, EIF4A3, SOS1, NADK2, IGHMBP2, ITCH, PDE6D, PPP1R15B, FANCM, PIK3CA, GFM1, MTO1, HOXD13, NUBPL, ACTA1, VRK1, SMARCA4, STT3A, SCNN1G, CDKL5, CLCN5, BBS10, IGF2, NOS3, PARN, DCLRE1C, SCNN1A, RAB39B, NNT, GALT, HADHA, CEP152, PLOD1, PSMB8, LMNA, MMP13, PNPLA8, IRF8, DNM1L, DPYD, GTPBP3, TMEM173, GSC, ATP8B1, RPS6KA3, STAMBP, INS, MOCS1, DIS3L2, YARS2, DKC1, KIF14, SDHD, SLC22A5, LMX1B, HLA-DRB1, CNTN1, RAB33B, GNA11, BCS1L, RAPSN, CEP164, BRCA1, PTHLH, PHC1, ITPR2, FLNB, TUBGCP6, KLF1, SMARCAL1, ATP5A1, PHGDH, DCTN1, PTS, DNA2, RPS10, POLD1, TMEM165, MCCC1, RPS19, NONO, FGFR3, CFTR, FAH, SSR4, THOC2, SMARCB1, AGPS, PUF60, ABCA3, SDHA, CENPE, JAK3, ATP7A, TGFB1, ERCC4, TP63, NEK1, POLE, PPARGC1B, SUCLG1, ABCC9, GATA6, ACD, STRADA, RIT1, ABCC8, HRAS, POLG, OCLN, ZAP70, TRIM37, TUFM, BRCA2, MARS2, CARS2, POLR1A, COL1A1, ORC1, PIGT, DNM2, DDX3X, PPARG, PRKAR1A, KISS1R, HPRT1, BTK, IBA57, CLASP1, NEU1, TRIM32, AARS, ERCC2, PDGFRB, UMPS, WNT7A, CHD7, KRAS, RBM8A, GLI2, WRN, GCH1, LHX3, ARFGEF2, MEGF10, DDX11, IKBKAP, ASS1, NSUN2, TSFM, PDE3A, FANCC, TGFBR1, TAF1, AP1S1, GCDH, RTEL1, CLPB, ZBTB16, SF3B4, PLOD2, SPATA5, LARS, KCNJ11, GJA1, SMARCA2, INPP5E, HNF4A, RPS28, MECP2, MVK, CASR, GCK, MYO5B, KIF1B, TRIM2, GALE, PRKDC, NDUFS1, MRPL3, PLK4, IGF1R, MED12, SLC25A4, MCM4, CDKN1C, DNMT3B, SIL1, MUSK, DDOST, TRAC, PNPT1, RUNX2, SUMF1, NHP2, LCK, NME1, FLNA, MYH11, POLR3A, MCM9, RAB23, ACACA, ATR, HSD17B4, PDHA1, ATM, QDPR, CASK, NLRP3, PRKACA, INSR, PKLR, CPS1, FGFR2, NPHS1, MARS, RPL11, MYH8, L1CAM, RET, PEX19, PTEN, HACE1, RARS2, DNAJC3, SAR1B, NR0B2, BMPR1B, AHCY, TGFBR2, MTRR, SHH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, BARAITSER-WINTER SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 5, CAMURATI-ENGELMANN DISEASE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ZIMMERMANN-LABAND SYNDROME 1, DENT DISEASE, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, STORMORKEN SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ARTHROGRYPOSIS, DISTAL, TYPE 3, OROTIC ACIDURIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, ?SPASTIC PARAPLEGIA 63, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?MARDEN-WALKER SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, PSEUDOHYPOALDOSTERONISM, TYPE I, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, KEPPEN-LUBINSKY SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OTOPALATODIGITAL SYNDROME, TYPE I, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, BARTTER SYNDROME, TYPE 4B, DIGENIC, LEBER CONGENITAL AMAUROSIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ESCOBAR SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, HYPOPHOSPHATASIA, CHILDHOOD, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MASA SYNDROME, CRASH SYNDROME, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, HUNTINGTON DISEASE-LIKE 2, IMMUNODEFICIENCY 9, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, KIF5C, PDE4D, KCNJ5, VLDLR, CLCN5, KCNJ11, GJA1, KCNJ10, MASP1, KCNJ1, SCNN1G, PEX5, CLCNKA, CHRNG, PRKACA, GUCY2D, NALCN, STIM1, SCNN1B, AKT1, TGFB1, GRM1, NOS3, KCNH1, JPH3, KLF1, CASR, INS, AGT, CASK, KCNJ6, UMPS, SCNN1A, CHRNA1, HRAS, FLNA, MTOR, ALB, ARFGEF2, ITPR2, PRKDC, CREBBP, ORAI1, PIEZO2, EFEMP2, PIEZO1, L1CAM, LRP2, CLCNKB, GLIS3, ADRB2, PTPN11, CHRNB1, KCNJ2, PTEN, BSND, CACNA1S, EGFR, ALPL, AMPD2, RYR1, ACTB, MUSK, ABCC8, PCNA, POMC, GRID2, CNTN1, STAT3, CFTR, CHRND, ACD, TRH, IGF1, PIK3R2, AQP2, PIK3R1

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, LUJAN-FRYNS SYNDROME, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSKERATOSIS CONGENITA, X-LINKED, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HOLOPROSENCEPHALY-9, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, CATSHL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, COFFIN-LOWRY SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, GLUTARIC ACIDURIA III, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, ANGELMAN SYNDROME, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, IMMUNODEFICIENCY 12, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, LUSCAN-LUMISH SYNDROME, TYROSINEMIA, TYPE I, KLEEFSTRA SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ARTS SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, TRIFUNCTIONAL PROTEIN DEFICIENCY, BRACHYDACTYLY, TYPE E2, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NICOLAIDES-BARAITSER SYNDROME, SENGERS SYNDROME, MEIER-GORLIN SYNDROME 2, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 10, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, BRACHYDACTYLY, TYPE E, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEBER CONGENITAL AMAUROSIS 1, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, MUCOLIPIDOSIS III ALPHA/BETA, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, GABA-TRANSAMINASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MENKES DISEASE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, SACCHAROPINURIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, DYSAUTONOMIA, FAMILIAL, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, ?DIARRHEA 7, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TYROSINEMIA, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP C, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, GLYCOGEN STORAGE DISEASE VI, NOONAN SYNDROME 8, BARTH SYNDROME, WEISSENBACHER-ZWEYMULLER SYNDROME, ATELOSTEOGENESIS, TYPE I, ?SECKEL SYNDROME 6, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, COLE-CARPENTER SYNDROME 1, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 8, CEREBROOCULOFACIOSKELETAL SYNDROME 4, MEIER-GORLIN SYNDROME 1, LOEYS-DIETZ SYNDROME 2, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FUMARASE DEFICIENCY, MUCOLIPIDOSIS II ALPHA/BETA, KABUKI SYNDROME 2, NEU-LAXOVA SYNDROME 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, RAINE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, CINCA SYNDROME, SOTOS SYNDROME 1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ALAGILLE SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, OPSISMODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MENTAL RETARDATION, X-LINKED 98, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEPHRONOPHTHISIS 1, JUVENILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, EVEN-PLUS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEVALONIC ACIDURIA, NEPHROTIC SYNDROME, TYPE 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, NOONAN SYNDROME 10, GLYCEROL KINASE DEFICIENCY, SPONDYLOPERIPHERAL DYSPLASIA, ?MUCOPOLYSACCHARIDOSIS TYPE IX, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, DESBUQUOIS DYSPLASIA 2, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 5, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLOFACIODENTAL SYNDROME, INCONTINENTIA PIGMENTI, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, BRANCHIOOCULOFACIAL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, BOWEN-CONRADI SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, WARBURG MICRO SYNDROME 3, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ?OSTEOGENESIS IMPERFECTA, TYPE X, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, SADDAN, JOHANSON-BLIZZARD SYNDROME, OROTIC ACIDURIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, BOOMERANG DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOOCULAR SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, YUNIS-VARON SYNDROME, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, OHDO SYNDROME, X-LINKED, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), 3-M SYNDROME 1, ROBERTS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, GLYCOGEN STORAGE DISEASE IXC, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ATELEIOTIC DWARFISM, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, TRICHOHEPATOENTERIC SYNDROME 2, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CORNELIA DE LANGE SYNDROME 1, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ?SECKEL SYNDROME 8, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, WATSON SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OROFACIODIGITAL SYNDROME I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ACROMICRIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP T, APERT SYNDROME, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, BRACHYDACTYLY, TYPE D, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, LEUKODYSTROPHY, HYPOMYELINATING, 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 13, THANATOPHORIC DYSPLASIA, TYPE II, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, MEDNIK SYNDROME, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, COENZYME Q10 DEFICIENCY, PRIMARY, 7, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ?JOUBERT SYNDROME 22, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, ROTHMUND-THOMSON SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, ?MICROHYDRANENCEPHALY, OSTEOGENESIS IMPERFECTA, TYPE II, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ARGININEMIA, TENORIO SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, PANCREATIC AGENESIS 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SECKEL SYNDROME 5, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, RESTRICTIVE DERMOPATHY, LETHAL, MACROCEPHALY/AUTISM SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), FANCONI ANEMIA, COMPLEMENTATION GROUP D1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, SECKEL SYNDROME 9, HYPERTHYROIDISM, NONAUTOIMMUNE, GALACTOSEMIA, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, SPONDYLOCOSTAL DYSOSTOSIS 5, WILSON-TURNER SYNDROME, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, ?SPASTIC PARAPLEGIA 63, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COENZYME Q10 DEFICIENCY, PRIMARY, 2, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SMITH-KINGSMORE SYNDROME

PLOD3, LMNA, GPT2, CIITA, COL3A1, RPL5, ALG3, PCYT1A, CDC6, GLYCTK, AKT2, ESCO2, TERT, FH, NAGS, AGK, G6PC, ASPM, TGFBR2, CREBBP, EFNB1, EXOSC8, KMT2C, TRMT5, AQP2, SUGCT, PHKB, PHKA2, AR, P4HB, THRA, BUB1B, ABAT, KIAA2022, BLK, MGAT2, BMPR1A, CBL, SMARCE1, NR1I3, TALDO1, SUCLA2, PAPSS2, MKKS, ROR2, TNNT2, NAT8L, NDUFA10, MT-CO1, GATA1, MAN1B1, BANF1, ALDOA, AGL, DDR2, PRPS1, TAT, XYLT2, SETD2, DVL3, CHST14, CEP63, SLC34A1, HDAC6, LEP, CTDP1, ARG1, NUP62, PPP2R1A, HES7, AKT1, RIPK4, INPPL1, AIP, PPIB, LRPPRC, UBE3A, COX15, EZH2, TWIST1, SDC3, HSPA9, GNE, PEX5, XRCC4, POMC, NOD2, KDM6A, COQ4, ADK, POLA1, CHST3, CUL4B, PIGN, LRP5, RAB18, SLC9A1, PIGA, NPHP1, SEC23A, PIK3R2, PTPN11, HADHB, TSR2, MT-CO2, PDSS1, SRCAP, HMGB3, GPX4, B4GALT7, FANCL, LRP2, DHCR24, POLR3B, ALB, GNPTAB, KMT2A, TRAIP, MMP1, NAA10, ACTB, MOCS2, DGUOK, ALPL, B3GLCT, COL11A2, PTDSS1, MYH7, NDUFS4, HADH, NPR2, TRNT1, CDT1, NBN, SOS1, MYH3, NRAS, RBCK1, IKBKAP, CUL7, SF3B4, FIG4, SOX9, ACAN, NDE1, MAP2K2, TFAP2A, GUCY2D, PYGL, NOTCH1, ERCC3, TTC37, FGFR1, UBR1, FASTKD2, GTPBP3, KIF5C, GK, EARS2, ZMPSTE24, MCPH1, FANCA, FGF23, STAT3, FANCD2, BRAF, KAT6A, MALT1, ORC4, DPH1, GNPTG, UBE2A, MMAB, IGF1, SMAD9, RIT1, KIF2A, MRPS16, TAZ, AASS, UBE2T, NDN, TRIM2, SMC1A, GBE1, VDR, DVL1, MUT, EGFR, IKBKB, SCNN1G, LHX4, SNCA, SARS2, NF1, FARS2, LZTR1, KCNH1, OCLN, OTC, DYRK1A, AIMP1, PTS, JAGN1, B3GAT3, TGFB1, TYMP, PIP5K1C, KMT2D, DDX58, MTR, MAP3K1, ZBTB16, NOS3, BLM, TINF2, IL6, DGAT1, OFD1, PCNA, FLNB, PMPCA, ALDH18A1, HSPG2, ESR1, C10orf2, MTOR, PDX1, DYRK1B, ADRB2, STT3B, RAD21, IGBP1, IKBKG, CTSA, EFTUD2, AGT, TAF6, KDM1A, MAGEL2, RECQL4, WNT5A, EIF4A3, NADK2, ALG1, ITCH, PDE6D, PNPLA2, FANCM, PIK3CA, LTBP4, ST3GAL5, JAG1, COL2A1, MUSK, NUBPL, ACTA1, VRK1, SMARCA4, STT3A, CASP8, NDUFAF6, CDKL5, ABCB11, IGF2, NOTCH2, SCNN1A, GALT, HADHA, CEP152, HGSNAT, IRF8, TMEM173, TSHR, GSC, DNM2, RPS6KA3, STAMBP, INS, COL7A1, FAM20C, DDX3X, DKC1, HPRT1, EXT1, LMX1B, STAT1, CNTN1, BCS1L, KIF1B, BRCA1, PRKAR1A, ITPR2, SMS, KLF1, MTFMT, ATP5A1, DNA2, POLD1, PIGO, RPS19, PTEN, FGFR3, EMG1, POLG2, CFTR, COX10, EHMT1, FAH, LIAS, SMARCB1, HDAC8, AGPS, DPM1, PHKG2, KCNJ10, CENPE, JAK3, ATP7A, XYLT1, TP63, NEK1, POLE, GATM, DNMT3A, GBA, SUCLG1, ACD, STRADA, TRH, HNMT, HRAS, POLG, EIF2AK3, NDUFAF5, AGPAT2, ZAP70, TRIM37, TUFM, NSD1, BRCA2, POLR1A, COL1A1, ORC1, RAG1, PIGT, ERCC1, GLB1, PPARG, PTHLH, BTK, IBA57, CLASP1, NEU1, TRIM32, RNF168, PDGFRB, SMAD4, UMPS, DNMT3B, WNT7A, SDHD, CHD7, KRAS, GLI2, NKX2-5, WRN, HYAL1, GCH1, TPM3, PIGG, TRMT10A, LHX3, RPL11, NR0B1, NSUN2, ELOVL4, TGFBR1, TAF1, AP1S1, CLP1, CLPB, NOTCH3, NDST1, HCFC1, GPC3, GJA1, SMARCA2, FTCD, INPP5E, WDR81, HNF4A, MECP2, MVK, TGFB3, CASR, GCK, PYCR2, GALE, PRKDC, EXT2, NDUFS1, MRPL3, PLK4, IGF1R, MED12, ACO2, SLC25A4, PSAT1, CDKN1C, DNAJC3, B3GALT6, DDOST, TRAC, PNPT1, SKIV2L, RUNX2, SUMF1, LCK, NME1, FLNA, POLR3A, HCCS, BMPR1B, HSD17B4, DHCR7, PDHA1, ATM, BRF1, CASK, NLRP3, PRKACA, INSR, PKLR, SERPINH1, CPS1, FGFR2, NPHS1, MARS, GNPAT, FANCC, L1CAM, FBN1, RET, PEX19, PNP, HACE1, HOXD13, DOLK, AMPD2, RNF125, MYH11, ATR, PIK3R1, PORCN, SHH

SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RABSON-MENDENHALL SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, ESTROGEN RESISTANCE, PSEUDOPSEUDOHYPOPARATHYROIDISM, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, BRACHYDACTYLY, TYPE E2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SMITH-KINGSMORE SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL

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

SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, OPSISMODYSPLASIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RABSON-MENDENHALL SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?DYSTONIA, JUVENILE-ONSET, BARAITSER-WINTER SYNDROME 1, LEPRECHAUNISM, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

EGFR, ACTB, IGF1R, ENPP1, CBL, MUSK, LEP, DOK7, LMBRD1, IGF1, PTPN11, RET, PIK3R1, INS, IGF2, INPPL1, INSR

REVESZ SYNDROME, IMMUNODEFICIENCY 15, EVEN-PLUS SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MELNICK-NEEDLES SYNDROME, ATELEIOTIC DWARFISM, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, MITCHELL-RILEY SYNDROME, CAMURATI-ENGELMANN DISEASE, DYSKERATOSIS CONGENITA, X-LINKED, DYSAUTONOMIA, FAMILIAL, CORNELIA DE LANGE SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, KLEEFSTRA SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, HYPOPHOSPHATASIA, INFANTILE, OTOPALATODIGITAL SYNDROME, TYPE II, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ATAXIA-TELANGIECTASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, OSTEOGENESIS IMPERFECTA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MICROVILLUS INCLUSION DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CINCA SYNDROME, SOTOS SYNDROME 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, COFFIN-SIRIS SYNDROME 3, ANGELMAN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OHDO SYNDROME, X-LINKED, TARSAL-CARPAL COALITION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, BRACHYDACTYLY, TYPE E, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, CORPUS CALLOSUM AGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRACHYDACTYLY, TYPE A1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NESTOR-GUILLERMO PROGERIA SYNDROME, HOLOPROSENCEPHALY-9, CORNELIA DE LANGE SYNDROME 4, DIGEORGE SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, NOONAN SYNDROME 10, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PROUD SYNDROME, CORNELIA DE LANGE SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, COUSIN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, AYME-GRIPP SYNDROME, COFFIN-SIRIS SYNDROME 1, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, OPITZ-KAVEGGIA SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, CEREBELLOFACIODENTAL SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, WILSON-TURNER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PANCREATIC AGENESIS 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ABCD SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XV, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, KABUKI SYNDROME 1, BRACHYDACTYLY, TYPE D, LUJAN-FRYNS SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, WNT5A, PLAGL1, RAD21, IKBKG, TWIST1, CYP11B2, TERT, TBX3, AGT, PPARG, OTX2, KDM1A, CDC6, BTK, POLR1A, ZEB2, MYH7, AKT2, NOG, ITCH, BCOR, IKBKAP, COL1A1, G6PC, NEUROG3, SIX3, TGFBR2, RFX6, HOXD13, CREBBP, POU1F1, KMT2C, PTEN, SMARCB1, SOX9, CHD7, TBX15, SOX2, GLI2, CASP8, NKX2-5, CYP7B1, NME1, SP7, LONP1, IGF2, NOTCH1, THRA, PTF1A, BUB1B, CIITA, MTOR, SOX3, TAF6, LHX3, SMARCE1, COL2A1, NR1I3, MMP13, STAT1, IRF8, GLIS3, NKX3-2, TAF1, TFAP2A, GSC, PCNA, TP63, KMT2A, TBX1, INS, IGF1, PAX8, GATA1, BANF1, ALPL, DKC1, SMARCA2, HNF1B, SMAD4, ARX, SMAD9, TBX6, MECP2, ZNF335, HDAC6, FLNA, MYO5B, HNF4A, BRCA1, PTHLH, AKT1, SMARCA4, PRKDC, FOXP1, CFTR, MED12, EGFR, IKBKB, IHH, GLI3, POLD1, RBMX, SNCA, CDKN1C, HSPA9, NONO, GH1, LZTR1, POMC, MAF, KDM6A, DLX5, STAT3, RUNX2, VDR, HESX1, AR, SLC2A1, DYRK1A, HDAC8, BMPR1B, FOXG1, TGFB1, PTRF, PTPN11, ATM, GATA6, KMT2D, KLF1, BRF1, NSD1, NLRP3, PPARGC1B, FGFR2, DNMT3A, IL6, WNT1, HCFC1, TRH, ERCC6, RET, CTCF, SOX11, KAT6A, EDNRB, HACE1, CDK5RAP2, DNMT3B, SFTPC, PDX1, NR0B2, ZBTB18, PEX2, ESR1, PIK3R1, TINF2, MMP1, SHH

REVESZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 15, BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, STAR SYNDROME, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, MELNICK-NEEDLES SYNDROME, ATELEIOTIC DWARFISM, MYHRE SYNDROME, 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, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, LEOPARD SYNDROME 3, PARASTREMMATIC DWARFISM, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, KENNY-CAFFEY SYNDROME, TYPE 1, LARON DWARFISM, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEPHRONOPHTHISIS 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?IMMUNODEFICIENCY 22, MICROVILLUS INCLUSION DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ANGELMAN SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, STRIATONIGRAL DEGENERATION, INFANTILE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, STICKLER SYNDROME, TYPE I, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MEDNIK SYNDROME, PARKINSON DISEASE 4, WEAVER SYNDROME, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, NOONAN SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, ATAXIA-TELANGIECTASIA, OTOPALATODIGITAL SYNDROME, TYPE I, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SECKEL SYNDROME 5, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, KNIEST DYSPLASIA, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, CAMURATI-ENGELMANN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, GROWTH HORMONE INSENSITIVITY, PARTIAL, 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, AMYOTROPHY, HEREDITARY NEURALGIC, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ?SECKEL SYNDROME 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, CLOVE SYNDROME, SOMATIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, SACCHAROPINURIA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, LISSENCEPHALY 4 (WITH MICROCEPHALY), LEUKODYSTROPHY, HYPOMYELINATING, 12, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, MEIER-GORLIN SYNDROME 5, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, BLOOM SYNDROME, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, XERODERMA PIGMENTOSUM, GROUP B, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FAM58A, WNT5A, PRKACA, ACTB, IGBP1, IKBKG, RPL5, TBX3, AP4B1, SEPT9, PPARG, SOX2, PRKAR1A, NPHP4, CDC6, BTK, TBCE, CBL, PEX13, NPR2, PROK2, DNM2, PIK3CA, EFEMP2, PDGFRB, CREBBP, COL2A1, SF3B4, TGFBR2, SMARCB1, SOX9, ATRX, DOK7, GH1, NDE1, MEGF10, MAP2K2, EGFR, LZTR1, NME1, WRN, NOS3, PARN, ERCC3, BUB1B, TPM3, GHR, CEP152, DSP, NR0B1, EFTUD2, TALDO1, TGFBR1, TGFB3, TAF1, AP1S1, TMEM173, L1CAM, ZBTB16, GSC, PCNA, RPS6KA3, AGT, STAT3, PTPRC, INS, GATA1, GJA1, SMAD4, USP9X, DVL3, MECP2, STAT1, HDAC6, CASR, CTDP1, AASS, MYO5B, NUP62, PPP2R1A, CEP164, BRCA1, VPS11, AKT1, RIPK4, SMARCA4, VDR, MRPL3, PLK4, CFTR, UBE3A, CDK5RAP2, IKBKB, DCTN1, EZH2, AQP2, SNCA, ITCH, RPS19, PTEN, TRPV4, MUSK, POMC, NOD2, DDOST, ZEB2, CENPJ, POLA1, LCK, AR, FLNA, DYRK1A, PPP2R5D, PTRF, TGFB1, PTPN11, ATM, GATA6, DVL1, EIF2AK3, MAP3K1, NOTCH1, SOS1, BLM, BRAF, JAK3, CACNA1S, ACD, HCFC1, TRH, HRAS, HACE1, LRP2, OCLN, MYH11, TERT, ATR, ESR1, TINF2, TUFM, MTOR, PIK3R1

REVESZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 15, BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, STAR SYNDROME, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIAMOND-BLACKFAN ANEMIA 6, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, MELNICK-NEEDLES SYNDROME, ATELEIOTIC DWARFISM, MYHRE SYNDROME, 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, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, LEOPARD SYNDROME 3, PARASTREMMATIC DWARFISM, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, KENNY-CAFFEY SYNDROME, TYPE 1, LARON DWARFISM, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, WIEDEMANN-STEINER SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?IMMUNODEFICIENCY 22, MICROVILLUS INCLUSION DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ANGELMAN SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, STRIATONIGRAL DEGENERATION, INFANTILE, PARKINSON DISEASE 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, STICKLER SYNDROME, TYPE I, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MEDNIK SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, WEAVER SYNDROME, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, ATAXIA-TELANGIECTASIA, OTOPALATODIGITAL SYNDROME, TYPE I, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SECKEL SYNDROME 5, SED CONGENITA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), KNIEST DYSPLASIA, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, CAMURATI-ENGELMANN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, GROWTH HORMONE INSENSITIVITY, PARTIAL, 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, AMYOTROPHY, HEREDITARY NEURALGIC, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORNELIA DE LANGE SYNDROME 1, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ?SECKEL SYNDROME 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, SACCHAROPINURIA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, LISSENCEPHALY 4 (WITH MICROCEPHALY), LEUKODYSTROPHY, HYPOMYELINATING, 12, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, MEIER-GORLIN SYNDROME 5, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, XERODERMA PIGMENTOSUM, GROUP B, BANNAYAN-RILEY-RUVALCABA SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FAM58A, WNT5A, PRKACA, ACTB, IGBP1, IKBKG, SMARCA4, RPL5, TBX3, AP4B1, SEPT9, EIF4A3, PPARG, SOX2, PRKAR1A, CDC6, KMT2A, BTK, TBCE, CBL, PEX13, NPR2, PROK2, DNM2, PIK3CA, EFEMP2, TGFBR2, CREBBP, COL2A1, SF3B4, PDGFRB, SMARCB1, PCNA, SOX9, ATRX, DOK7, GH1, KRAS, MEGF10, MAP2K2, EGFR, LZTR1, NME1, WRN, NOS3, PARN, ERCC3, BUB1B, TPM3, TAF6, MECP2, CEP152, DSP, NR0B1, TALDO1, TGFBR1, TGFB3, TAF1, AP1S1, TMEM173, L1CAM, ZBTB16, GSC, HCFC1, RPS6KA3, AGT, STAT3, BRAF, ACD, GATA1, GJA1, SMAD4, USP9X, DVL3, GHR, STAT1, HDAC6, FLNA, CASR, CTDP1, AASS, MYO5B, NUP62, PPP2R1A, CEP164, BRCA1, VPS11, AKT1, RIPK4, NDE1, VDR, MRPL3, PLK4, CFTR, NPHS1, CDK5RAP2, IKBKB, DCTN1, EZH2, AQP2, SNCA, ITCH, RPS19, PTEN, TRPV4, MUSK, POMC, NOD2, DDOST, ZEB2, CENPJ, POLA1, LCK, PRKDC, AR, SLC2A1, DYRK1A, PPP2R5D, PTRF, TGFB1, PTPN11, ATM, GATA6, DVL1, EIF2AK3, MAP3K1, NOTCH1, SOS1, BLM, PTPRC, UBE3A, JAK3, CACNA1S, INS, STRADA, TRH, HRAS, HACE1, LRP2, OCLN, MYH11, TERT, ATR, ESR1, TINF2, TUFM, MTOR, PIK3R1

REVESZ SYNDROME, IMMUNODEFICIENCY 15, BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DIGEORGE SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, COCKAYNE SYNDROME, TYPE A, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, SELECTIVE T-CELL DEFECT, ?SECKEL SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, COLE-CARPENTER SYNDROME 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 4, METATROPIC DYSPLASIA, LOEYS-DIETZ SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, KLEEFSTRA SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, OGDEN SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, XERODERMA PIGMENTOSUM, GROUP B, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, IMMUNODEFICIENCY 19, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NOONAN SYNDROME 4, CORNELIA DE LANGE SYNDROME 1, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE II, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MEIER-GORLIN SYNDROME 5, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SECKEL SYNDROME 1, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ?IMMUNODEFICIENCY 22, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, MICROVILLUS INCLUSION DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 6, LUJAN-FRYNS SYNDROME, PHELAN-MCDERMID SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, VELOCARDIOFACIAL SYNDROME, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TARSAL-CARPAL COALITION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, RABSON-MENDENHALL SYNDROME, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, KEPPEN-LUBINSKY SYNDROME, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, IMMUNODEFICIENCY 12, PANCREATIC AGENESIS 1, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NESTOR-GUILLERMO PROGERIA SYNDROME, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OCULOECTODERMAL SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, ?MECKEL SYNDROME 12, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, {AUTISM, SUSCEPTIBILITY TO, 18}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, RENPENNING SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, EIKEN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE XIII, TRICHOHEPATOENTERIC SYNDROME 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPERPARATHYROIDISM, NEONATAL, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PARASTREMMATIC DWARFISM, AMYOTROPHY, HEREDITARY NEURALGIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?SECKEL SYNDROME 4, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OPITZ-KAVEGGIA SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ENCEPHALOPATHY, NEONATAL SEVERE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OHDO SYNDROME, X-LINKED, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOSIALIDOSIS, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, NAIL-PATELLA SYNDROME, ROBINOW SYNDROME, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, CLOVE SYNDROME, SOMATIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, SESAME SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HAJDU-CHENEY SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LISSENCEPHALY 4 (WITH MICROCEPHALY), ABCD SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MICROPHTHALMIA, SYNDROMIC 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, SEC23A, CD3D, KCNJ10, PDE4D, ADRB2, NAA10, PRKACA, ACTB, IGBP1, IKBKG, LHX4, CTSA, SMARCA4, RPL5, TERT, AGT, SEPT9, KCNJ6, OTX2, PRKAR1A, MUSK, CDC6, WNT5A, BTK, CHD8, NOG, PEX13, CLASP1, COL1A1, DNM2, PIK3CA, PTPN11, NOTCH1, EFEMP2, ERCC2, PDGFRB, SMAD4, CREBBP, GRID2, SOX2, SF3B4, PTEN, SMARCB1, ACTA1, SOX9, ATRX, CHD7, KRAS, GLI2, SCNN1G, EGFR, NKX2-5, CHMP1A, AR, WRN, GNAS, NOS3, THRA, ERCC3, IL6, ERCC1, RYR1, CRIPT, SHANK3, SCNN1A, TAF6, CEP63, LHX3, CBL, SMARCE1, IKBKAP, MMP13, NR0B1, EFTUD2, AVPR2, DVL1, TGFBR1, TAF1, EHMT1, ZBTB16, GSC, HCFC1, RPS6KA3, TP63, ERCC8, TBX1, INS, MALT1, GATA1, BANF1, PQBP1, BMP1, SMARCA2, ZAP70, IGF1, NUP62, DVL3, SLC22A5, SCNN1B, PEX19, MECP2, LMX1B, RAPSN, HLA-DRB1, HDAC6, LRP5, CASR, CNTN1, GJA1, MYO5B, HNF4A, PPP2R1A, CEP164, HRAS, BRCA1, MTOR, NDE1, AKT1, SLC9A1, INPPL1, PRKDC, MRPL3, PLK4, CFTR, MED12, UBE3A, CDK5RAP2, IKBKB, MAP2K2, EZH2, GLI3, TWIST1, AQP2, SNCA, ITCH, TSHR, EFNB1, PEX5, TRPV4, LZTR1, POMC, CIITA, NOD2, DLX5, STAT3, RUNX2, CENPJ, POLA1, LCK, AIP, FLNA, MYH11, DYRK1A, PIK3R1, BMPR1B, PIK3R2, TGFB1, P4HB, CENPE, ATM, GATA6, IGF1R, KIF14, CASK, STAT1, NEB, MAP3K1, INSR, RBMX, NOTCH2, SOS1, PPARGC1B, NIPBL, CDKL5, NPHS1, RAB3GAP1, RPL11, PIP5K1C, WNT1, PTHLH, L1CAM, ACD, PCNA, RET, GRM1, PTH1R, EDNRB, LRP2, WNT4, DNMT3B, UCP1, PDX1, OCLN, NR0B2, SH3PXD2B, ATR, ESR1, CASP8, TGFBR2, TINF2, TUFM, SKIV2L, SHH

REVESZ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SECKEL SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, CATSHL SYNDROME, DYSAUTONOMIA, FAMILIAL, MOLYBDENUM COFACTOR DEFICIENCY A, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, WARSAW BREAKAGE SYNDROME, COFFIN-LOWRY SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ACHONDROPLASIA, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, MICROVILLUS INCLUSION DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, CITRULLINEMIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ACETYL-COA CARBOXYLASE DEFICIENCY, CARPENTER SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NESTOR-GUILLERMO PROGERIA SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ARTS SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, BRACHYDACTYLY, TYPE E2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MECKEL SYNDROME 12, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, D-GLYCERIC ACIDURIA, MEIER-GORLIN SYNDROME 2, BARTTER SYNDROME, TYPE 4B, DIGENIC, ?AL-GAZALI-BAKALINOVA SYNDROME, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OGDEN SYNDROME, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, BRACHYDACTYLY, TYPE E, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEBER CONGENITAL AMAUROSIS 1, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MENTAL RETARDATION, X-LINKED 72, MENKES DISEASE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, CORPUS CALLOSUM AGENESIS, SACCHAROPINURIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, TARP SYNDROME, OVARIAN DYSGENESIS 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), XERODERMA PIGMENTOSUM, GROUP B, BRACHYOLMIA TYPE 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, GLYCOGEN STORAGE DISEASE VI, PERRAULT SYNDROME 1, BARTH 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, NIJMEGEN BREAKAGE SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FUMARASE DEFICIENCY, PROPIONICACIDEMIA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, SESAME SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, {AUTISM, SUSCEPTIBILITY TO, 18}, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ARTHROGRYPOSIS, DISTAL, TYPE 8, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MULIBREY NANISM, CINCA SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, NOONAN SYNDROME 9, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, COFFIN-SIRIS SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OPSISMODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NOONAN SYNDROME 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, NOONAN SYNDROME 10, GLYCEROL KINASE DEFICIENCY, HYPERTENSION AND BRACHYDACTYLY SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ASPARAGINE SYNTHETASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?MICROPHTHALMIA, SYNDROMIC 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 7, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, OMENN SYNDROME, BARDET-BIEDL SYNDROME 10, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, COCKAYNE SYNDROME, TYPE B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DENT DISEASE, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ?BARDET-BIEDL SYNDROME 19, AMYOTROPHY, HEREDITARY NEURALGIC, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, BOOMERANG DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GALACTOSEMIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, DIAMOND-BLACKFAN ANEMIA 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), ?PRECOCIOUS PUBERTY, CENTRAL, 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OSTEOGENESIS IMPERFECTA, TYPE IX, GLYCOGEN STORAGE DISEASE IXC, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, NEPHRONOPHTHISIS 15, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SENGERS SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, ?SECKEL SYNDROME 8, WATSON SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OROFACIODIGITAL SYNDROME I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPOPHOSPHATEMIC RICKETS, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?JOUBERT SYNDROME 22, FANCONI ANEMIA, COMPLEMENTATION GROUP T, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, BRACHYDACTYLY, TYPE D, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, THANATOPHORIC DYSPLASIA, TYPE II, MEDNIK SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, 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, ZIMMERMANN-LABAND SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, PSEUDOHYPOPARATHYROIDISM IA, NOONAN SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, PYRUVATE KINASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ROTHMUND-THOMSON SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PANCREATIC AGENESIS 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, HOLOPROSENCEPHALY-9, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BARDET-BIEDL SYNDROME 12, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SECKEL SYNDROME 5, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MACROCEPHALY/AUTISM SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, PARASTREMMATIC DWARFISM, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, CODAS SYNDROME, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, SMITH-KINGSMORE SYNDROME

CA2, PDE4D, GNAS, CIITA, BMPR1A, RPL5, RBBP8, CDC6, GLYCTK, AKT2, CHD8, KIF7, RAD51C, FH, AGK, OCRL, CREBBP, EFNB1, MYO18B, DYNC2H1, PTEN, PHKB, ATRX, TRPV4, PHKA2, AR, LONP1, CD79A, THRA, BUB1B, MTOR, BLK, TAF6, CBL, KCNJ1, SUCLA2, PAPSS2, MKKS, ROR2, ABCD4, NDUFA1, TNNT2, ENPP1, TRAPPC9, NDUFA10, SEPT9, GATA1, BANF1, AGL, DDR2, PRPS1, NRAS, SMAD4, DVL3, CEP290, SLC34A1, HDAC6, IARS2, CTDP1, NARS2, PPP2R1A, AKT1, RIPK4, INPPL1, AIP, PPIB, UBE3A, EZH2, ARL6, HSPA9, GNE, MMAA, POMC, NOD2, ADK, POLA1, CUL4B, ASNS, FGF23, SLC9A1, BBS7, PIK3R2, PTPN11, MAPRE2, IFT27, PHKG2, VPS11, SRCAP, PCCA, RAB40AL, NLRP5, ERCC6, EGFR, SARS2, POLR3B, TERT, PEX5, NDUFS2, SEC23A, WNT5A, MMP1, NAA10, MT-CO2, ACTB, MOCS2, DGUOK, ALPL, AP4B1, PCCB, PDE11A, MCCC2, MYH7, NPR2, TRNT1, CDT1, NBN, POLE, BBS2, MYH3, AARS2, CLP1, KIF1A, CYB5R3, SOX9, MAP2K2, CLCNKA, GUCY2D, PYGL, NOTCH1, ERCC3, CBS, FGFR1, EXOSC8, KIF5C, DHFR, GK, EARS2, RBM10, VPS33B, NLRC4, FANCA, RAB18, CLCNKB, STAT3, FANCD2, BRAF, KAT6A, NIN, SOS2, ORC4, BBS12, DPH1, UBE2A, MMAB, IGF1, SMAD9, KIF2A, TAZ, AASS, UBE2T, TRIM2, SMC1A, GBE1, VDR, DVL1, MUT, CDK5RAP2, ITPA, LRP2, IKBKB, CASP8, LHX4, AQP2, BSND, NF1, FARS2, LZTR1, ABCB11, TUBB4A, OTC, PEX1, VPS45, DYRK1A, AIMP1, PTS, JAGN1, KCNJ10, KIF22, PIP5K1C, KMT2D, CFTR, EIF2AK3, PCLO, STAT1, MAP3K1, BLM, TINF2, IL6, PIK3R1, OFD1, PCNA, FLNB, SLC25A4, ARL13B, ALDH18A1, ESR1, DDX58, C10orf2, SKIV2L, PDX1, DYRK1B, ADRB2, RAD21, IFIH1, IGBP1, IKBKG, PEX6, EFTUD2, ATP6V1B2, AGT, VPS53, LEP, TRAPPC2, SNCA, RECQL4, EIF4A3, SOS1, NADK2, IGHMBP2, ITCH, PDE6D, PPP1R15B, FANCM, PIK3CA, GFM1, HOXD13, NUBPL, ACTA1, VRK1, SMARCA4, STT3A, SCNN1G, CDKL5, CLCN5, IGF2, NOS3, DCLRE1C, SCNN1A, RAB39B, GALT, CEP152, PSMB8, MMP13, PNPLA8, IRF8, DNM1L, GTPBP3, TMEM173, GSC, ATP8B1, RPS6KA3, STAMBP, INS, ABCC8, DIS3L2, DDX3X, DKC1, KIF14, SLC22A5, LMX1B, HLA-DRB1, CNTN1, RAB33B, GNA11, BCS1L, RAPSN, CEP164, BRCA1, PTHLH, PHC1, ITPR2, TUBGCP6, KLF1, SMARCAL1, ATP5A1, DCTN1, DNA2, POLD1, MCCC1, RPS19, NONO, FGFR3, FAH, SSR4, SMARCB1, ABCA3, CENPE, JAK3, ATP7A, TGFB1, ERCC4, TP63, NEK1, PCNT, SUCLG1, ABCC9, GATA6, ACD, STRADA, RIT1, MOCS1, HRAS, POLG, OCLN, ZAP70, TRIM37, TUFM, BRCA2, CARS2, POLR1A, COL1A1, ORC1, PIGT, DNM2, YARS2, PPARG, PRKAR1A, KISS1R, BTK, CLASP1, MARS2, TRIM32, AARS, ERCC2, PDGFRB, UMPS, WNT7A, CHD7, KRAS, GLI2, WRN, GCH1, LHX3, ARFGEF2, MEGF10, DDX11, IKBKAP, ASS1, NSUN2, TPM2, PDE3A, FANCC, TGFBR1, TAF1, AP1S1, RTEL1, CLPB, ZBTB16, SF3B4, SPATA5, LARS, KCNJ11, GJA1, SMARCA2, INPP5E, SNRPB, RPS28, MECP2, MVK, CASR, GCK, MYO5B, KIF1B, BBS10, GALE, PRKDC, NDUFS1, MRPL3, PLK4, IGF1R, MED17, MCM4, CDKN1C, DNMT3B, SIL1, MUSK, DDOST, TRAC, PNPT1, RUNX2, NHP2, LCK, NME1, FLNA, MYH11, POLR3A, MCM9, RAB23, ACACA, ATR, HSD17B4, PDHA1, ATM, CASK, NLRP3, PRKACA, INSR, PKLR, CPS1, FGFR2, NPHS1, MARS, RPL11, MYH8, L1CAM, RET, PEX19, HACE1, RARS2, DNAJC3, SAR1B, NR0B2, BMPR1B, AHCY, TGFBR2, MTRR, SHH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, IMMUNODEFICIENCY 12, PARKINSON DISEASE 4, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, KLEEFSTRA SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE VI, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MENTAL RETARDATION, X-LINKED 102, ?DYSTONIA, JUVENILE-ONSET, WATSON SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ANGELMAN SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ESTROGEN RESISTANCE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PALLISTER-HALL SYNDROME, COFFIN-SIRIS SYNDROME 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, APPARENT MINERALOCORTICOID EXCESS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

ACTA1, PRKDC, ACTB, DDX3X, FGFR1, SMARCA4, IGF1, ALB, AR, PYGL, NR1I3, AGT, PPARG, ESR1, MT-CO2, LEP, HSD11B2, VDR, FGFR2, MRPL3, IL6, NR0B1, UBE3A, TERT, LRP2, GLI3, AKR1D1, SNCA, EGFR, NF1, CYP21A2, CREBBP, POMC, HSPG2, STAT3, SPATA5, INS, RUNX2, NR3C2, MALT1

LYSYL HYDROXYLASE 3 DEFICIENCY, MULTIPLE SULFATASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VI, BRUCK SYNDROME 2

PLOD1, SUMF1, PLOD2, PLOD3

LYSYL HYDROXYLASE 3 DEFICIENCY, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, COLE-CARPENTER SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE IV, KLEEFSTRA SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, {OBESITY, SUSCEPTIBILITY TO, BMIQ14}, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OSTEOGENESIS IMPERFECTA, TYPE II, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, RESTRICTIVE DERMOPATHY, LETHAL, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, ETHYLMALONIC ENCEPHALOPATHY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NOONAN SYNDROME 7, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, SHORT SYNDROME, BRUCK SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DIAMOND-BLACKFAN ANEMIA 9, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ANGELMAN SYNDROME, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, HUTCHINSON-GILFORD PROGERIA, ESTROGEN RESISTANCE, RABSON-MENDENHALL SYNDROME, PARKINSON DISEASE 4, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, LEOPARD SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, AGAMMAGLOBULINEMIA 3, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, OSTEOGENESIS IMPERFECTA, TYPE VIII, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MANDIBULOACRAL DYSPLASIA, VITAMIN D-DEPENDENT RICKETS, TYPE I, KABUKI SYNDROME 1, EHLERS-DANLOS SYNDROME, TYPE VI, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PROTEUS SYNDROME, SOMATIC

PCNA, VDR, LMNA, AR, PPARG, CYP7B1, ADRB2, EGFR, QDPR, ETHE1, KRT5, IGBP1, CD79A, P4HB, NOS3, INSR, CYP27B1, ACP5, KMT2D, IGF1R, CBS, AGT, IKBKG, PLOD3, FTO, MT-CO2, PPP2R1A, LEP, COL1A2, CYP11B1, ALB, MSMO1, CYP2R1, PLOD1, ESR1, FOXP1, KMT2C, KLF1, PIK3R1, UBE3A, RPL5, INS, HCFC1, COL1A1, COL10A1, IL6, CYP11B2, GLI3, AKT1, SNCA, GATA6, ACO2, RPS10, POR, HSPA9, IGF1, CYB5R3, CYP21A2, PLOD2, POMC, CYP24A1, BRAF, P3H1, NDUFS2, NFU1, MTRR, LYRM4, RUNX2, NR1I3, MT-CO1

REVESZ SYNDROME, IMMUNODEFICIENCY 15, EVEN-PLUS SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MELNICK-NEEDLES SYNDROME, ATELEIOTIC DWARFISM, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, MITCHELL-RILEY SYNDROME, CAMURATI-ENGELMANN DISEASE, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, CORNELIA DE LANGE SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, KLEEFSTRA SYNDROME, ABCD SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, OTOPALATODIGITAL SYNDROME, TYPE II, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ATAXIA-TELANGIECTASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, OSTEOGENESIS IMPERFECTA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MICROVILLUS INCLUSION DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CINCA SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, COFFIN-SIRIS SYNDROME 3, ANGELMAN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OHDO SYNDROME, X-LINKED, TARSAL-CARPAL COALITION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, BRACHYDACTYLY, TYPE E, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, CORPUS CALLOSUM AGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRACHYDACTYLY, TYPE A1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NESTOR-GUILLERMO PROGERIA SYNDROME, HOLOPROSENCEPHALY-9, CORNELIA DE LANGE SYNDROME 4, DIGEORGE SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, NOONAN SYNDROME 10, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PROUD SYNDROME, CORNELIA DE LANGE SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, COUSIN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, AYME-GRIPP SYNDROME, COFFIN-SIRIS SYNDROME 1, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, OPITZ-KAVEGGIA SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, CEREBELLOFACIODENTAL SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, WILSON-TURNER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PANCREATIC AGENESIS 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, KABUKI SYNDROME 1, BRACHYDACTYLY, TYPE D, LUJAN-FRYNS SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, WNT5A, PLAGL1, RAD21, IKBKG, TWIST1, CYP11B2, TERT, TBX3, AGT, PPARG, OTX2, KDM1A, CDC6, BTK, POLR1A, ZEB2, MYH7, AKT2, NOG, ITCH, BCOR, IKBKAP, COL1A1, G6PC, NEUROG3, SIX3, TGFBR2, RFX6, HOXD13, CREBBP, POU1F1, KMT2C, PTEN, SMARCB1, SOX9, CHD7, TBX15, SOX2, GLI2, CASP8, NKX2-5, CYP7B1, NME1, SP7, LONP1, IGF2, NOTCH1, THRA, PTF1A, BUB1B, CIITA, MTOR, SOX3, TAF6, LHX3, SMARCE1, COL2A1, NR1I3, MMP13, STAT1, GLIS3, NKX3-2, TAF1, TFAP2A, GSC, PCNA, TP63, KMT2A, TBX1, INS, IGF1, PAX8, GATA1, BANF1, DKC1, SMARCA2, HNF1B, SMAD4, ARX, SMAD9, TBX6, MECP2, ZNF335, HDAC6, FLNA, MYO5B, HNF4A, BRCA1, PTHLH, AKT1, SMARCA4, PRKDC, FOXP1, CFTR, MED12, EGFR, IKBKB, IHH, GLI3, POLD1, RBMX, SNCA, CDKN1C, HSPA9, NONO, GH1, LZTR1, POMC, MAF, KDM6A, DLX5, STAT3, RUNX2, VDR, HESX1, AR, SLC2A1, DYRK1A, HDAC8, BMPR1B, FOXG1, TGFB1, PTRF, ATM, GATA6, KMT2D, KLF1, BRF1, NSD1, NLRP3, PPARGC1B, FGFR2, DNMT3A, IL6, WNT1, HCFC1, TRH, ERCC6, RET, CTCF, SOX11, KAT6A, EDNRB, HACE1, CDK5RAP2, DNMT3B, SFTPC, PDX1, NR0B2, ZBTB18, PEX2, ESR1, PIK3R1, TINF2, MMP1, SHH

REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, BARAITSER-WINTER SYNDROME 1, ?JOUBERT SYNDROME 22, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ZIMMERMANN-LABAND SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, MEIER-GORLIN SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ?BARDET-BIEDL SYNDROME 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SINGLETON-MERTEN SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, RUBINSTEIN-TAYBI SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, RENAL CYSTS AND DIABETES SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, RAPADILINO SYNDROME, BARDET-BIEDL SYNDROME 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, CEREBROOCULOFACIOSKELETAL SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCONTINENTIA PIGMENTI, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MICROVILLUS INCLUSION DISEASE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, KENNY-CAFFEY SYNDROME, TYPE 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FILS SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FLOATING-HARBOR SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CHYLOMICRON RETENTION DISEASE, ACETYL-COA CARBOXYLASE DEFICIENCY, CORNELIA DE LANGE SYNDROME 2, OCULOECTODERMAL SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, RABSON-MENDENHALL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CORPUS CALLOSUM AGENESIS, CARPENTER SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PSEUDOHYPOPARATHYROIDISM IA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PERRAULT SYNDROME 1, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ARTHROGRYPOSIS, DISTAL, TYPE 8, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE IX, COFFIN-SIRIS SYNDROME 4, BALLER-GEROLD SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MECKEL SYNDROME 12, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {AUTISM, SUSCEPTIBILITY TO, 18}, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WARSAW BREAKAGE SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SMITH-MCCORT DYSPLASIA 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KOSAKI OVERGROWTH SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DE SANCTIS-CACCHIONE SYNDROME, DESBUQUOIS DYSPLASIA 1, SINGLETON-MERTEN SYNDROME 2, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, ?SECKEL SYNDROME 8, DIABETES INSIPIDUS, NEPHROGENIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LEPRECHAUNISM, HYPOPHOSPHATASIA, CHILDHOOD, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, OVARIAN DYSGENESIS 4, WATSON SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NOONAN SYNDROME 9, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, XERODERMA PIGMENTOSUM, GROUP B, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, CODAS SYNDROME, WARBURG MICRO SYNDROME 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SMITH-KINGSMORE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, DENT DISEASE 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

CA2, LMNA, BRCA2, DNM2, ADRB2, RAD21, ORC1, ACTB, TNNT3, IGBP1, IKBKG, CDT1, PEX6, RPL5, ALPL, ATP6V1B2, AP4B1, SEPT9, SSR4, PIGT, TRAPPC2, BBS4, PRKAR1A, RECQL4, KIF14, EIF4A3, MYH7, CHD8, KIF7, NF1, PDE6D, TRIM32, PIK3CA, SOS1, AR, ERCC2, OCRL, MYH3, CREBBP, EXOSC8, DNMT3B, DYNC2H1, KIF1A, PEX5, PCNT, ACTA1, SMARCA2, ATRX, CHD7, KRAS, CBL, NME1, DDX11, WRN, GNAS, NOS3, ERCC3, BUB1B, CIITA, SKIV2L, TAF6, GFM1, MYO18B, CANT1, KIF5C, MEGF10, LONP1, RPL11, TPM2, EFTUD2, VPS33B, IRF8, DVL1, TGFBR1, TGFB1, TAF1, ERCC5, GTPBP3, ABCD4, ZBTB16, TNNT2, RAB18, NR0B2, ATP8B1, AGT, STAT3, BRAF, NOTCH1, INS, DNM1L, ABCC8, FANCM, RAB33B, SOS2, DDX3X, GNA11, UBE2A, DCPS, HNF1B, SMAD4, CLASP1, CBS, KIF2A, ITPA, HLA-DRB1, HDAC6, PDGFRB, CASR, GJA1, MYO5B, KIF1B, SNRPB, SMARCAL1, PTHLH, AKT1, SMARCA4, IFIH1, PRKDC, ACACA, DDX58, TINF2, PPIB, EGFR, ATP5A1, DCTN1, DNA2, LHX4, SMC1A, MCM4, RAD51C, FANCA, NONO, ABCB11, DDOST, TUBB4A, POLR3B, POLA1, PEX1, HSD17B4, FLNA, MYH11, MCM9, RAB23, IGHMBP2, BMPR1B, JAGN1, AQP2, PIK3R2, KIF22, CENPE, ATM, AHCY, CFTR, ATP7A, IFT27, ABCA3, CASK, STAT1, DKC1, TBCE, INSR, SRCAP, ENPP1, POLE, BLM, GBE1, C10orf2, IL6, ABCC9, MYH8, RTEL1, PCNA, ERCC6, PEX19, PTEN, HRAS, HACE1, CDK5RAP2, DNAJC3, NHP2, VPS45, ATR, SAR1B, ESR1, PIK3R1, TRIM37, TUFM, MTOR, NDUFS2

LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BARAITSER-WINTER SYNDROME 1, COLE-CARPENTER SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, KLEEFSTRA SYNDROME, RAPADILINO SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MUSCULAR DYSTROPHY, CONGENITAL, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, RESTRICTIVE DERMOPATHY, LETHAL, DIAMOND-BLACKFAN ANEMIA 8, OSTEOGENESIS IMPERFECTA, TYPE II, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, ETHYLMALONIC ENCEPHALOPATHY, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, BRUCK SYNDROME 2, COFFIN-SIRIS SYNDROME 2, ALKAPTONURIA, ROTHMUND-THOMSON SYNDROME, MEIER-GORLIN SYNDROME 1, HUTCHINSON-GILFORD PROGERIA, ESTROGEN RESISTANCE, {OBESITY, SUSCEPTIBILITY TO, BMIQ14}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, HAWKINSINURIA, OSTEOGENESIS IMPERFECTA, TYPE VIII, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MANDIBULOACRAL DYSPLASIA, KABUKI SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, RUBINSTEIN-TAYBI SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, COFFIN-SIRIS SYNDROME 4, PROTEUS SYNDROME, SOMATIC

LMNA, ACTB, PPARG, SMARCA4, COL1A1, ETHE1, KRT5, KDM5C, P4HB, COL1A2, CREBBP, KMT2D, HPD, PLOD3, HGD, ORC1, RECQL4, KDM6A, PLOD1, ESR1, FOXP1, IL6, PCNA, AKT1, POR, RPS7, PLOD2, ARID1A, P3H1, FTO, KMT2C, INS, PIK3R1

REVESZ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SECKEL SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, CATSHL SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, WARSAW BREAKAGE SYNDROME, COFFIN-LOWRY SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ACHONDROPLASIA, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, CITRULLINEMIA, SELECTIVE T-CELL DEFECT, HARTNUP DISORDER, ACETYL-COA CARBOXYLASE DEFICIENCY, CARPENTER SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, HOLOPROSENCEPHALY-9, BRACHYDACTYLY, TYPE E2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MECKEL SYNDROME 12, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, OPITZ-KAVEGGIA SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, D-GLYCERIC ACIDURIA, MEIER-GORLIN SYNDROME 2, ?AL-GAZALI-BAKALINOVA SYNDROME, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OGDEN SYNDROME, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, BRACHYDACTYLY, TYPE E, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEBER CONGENITAL AMAUROSIS 1, GALACTOSIALIDOSIS, MENTAL RETARDATION, X-LINKED 72, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MENKES DISEASE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, CORPUS CALLOSUM AGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, TARP SYNDROME, OVARIAN DYSGENESIS 4, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, ABCD SYNDROME, BRACHYOLMIA TYPE 3, SACCHAROPINURIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE VI, NOONAN SYNDROME 8, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, WEISSENBACHER-ZWEYMULLER 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, NIJMEGEN BREAKAGE SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FUMARASE DEFICIENCY, PYCNODYSOSTOSIS, PROPIONICACIDEMIA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, SESAME SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, {AUTISM, SUSCEPTIBILITY TO, 18}, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ARTHROGRYPOSIS, DISTAL, TYPE 8, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MULIBREY NANISM, CINCA SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TARSAL-CARPAL COALITION SYNDROME, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OPSISMODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PERRAULT SYNDROME 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NEPHROTIC SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, NOONAN SYNDROME 10, GLYCEROL KINASE DEFICIENCY, SECKEL SYNDROME 5, SPONDYLOPERIPHERAL DYSPLASIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, ALAGILLE SYNDROME, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ASPARAGINE SYNTHETASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, ULNAR-MAMMARY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE XIII, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, ?MICROPHTHALMIA, SYNDROMIC 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, MICROVILLUS INCLUSION DISEASE, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, OMENN SYNDROME, BARDET-BIEDL SYNDROME 10, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PSEUDOACHONDROPLASIA, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, COCKAYNE SYNDROME, TYPE B, GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, ?LICHTENSTEIN-KNORR SYNDROME, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DENT DISEASE, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, PARASTREMMATIC DWARFISM, ?BARDET-BIEDL SYNDROME 19, AMYOTROPHY, HEREDITARY NEURALGIC, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, BOOMERANG DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GALACTOSEMIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, DIAMOND-BLACKFAN ANEMIA 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, CHYLOMICRON RETENTION DISEASE, SCLEROSTEOSIS 2, STIFF SKIN SYNDROME, OHDO SYNDROME, X-LINKED, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TYROSINEMIA, TYPE I, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), 3-M SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SCLEROSTEOSIS 1, OSTEOGENESIS IMPERFECTA, TYPE IX, GLYCOGEN STORAGE DISEASE IXC, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, 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, SENGERS SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, ?SECKEL SYNDROME 8, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, WATSON SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OROFACIODIGITAL SYNDROME I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ACROMICRIC DYSPLASIA, HYPOPHOSPHATEMIC RICKETS, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?JOUBERT SYNDROME 22, FANCONI ANEMIA, COMPLEMENTATION GROUP T, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, BRACHYDACTYLY, TYPE D, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HUNTINGTON DISEASE-LIKE 2, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ?MICROPHTHALMIA, SYNDROMIC 13, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MEDNIK SYNDROME, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, 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, ZIMMERMANN-LABAND SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, MILLER SYNDROME, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, NOONAN SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ROTHMUND-THOMSON SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?MICROHYDRANENCEPHALY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PANCREATIC AGENESIS 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BARDET-BIEDL SYNDROME 12, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, DENTAL ANOMALIES AND SHORT STATURE, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MUENKE SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CODAS SYNDROME, KABUKI SYNDROME 1, DYSAUTONOMIA, FAMILIAL, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SMITH-KINGSMORE SYNDROME, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2