GROWTH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, ?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, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOTUBULAR MYOPATHY, X-LINKED, MITCHELL-RILEY SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, PSEUDOHYPOPARATHYROIDISM IC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FANCONI-BICKEL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, PRADER-WILLI SYNDROME, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, KEPPEN-LUBINSKY SYNDROME, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ESTROGEN RESISTANCE, {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, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, GROWTH HORMONE INSENSITIVITY, PARTIAL, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PARKINSON DISEASE 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {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}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 12, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES INSIPIDUS, NEPHROGENIC, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, 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, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, LCK, SMARCA2, RFX6, AR, LRP5, UQCC2, KCNJ6, SMARCA4, ADRB2, SMAD4, PRKACA, DVL3, GHRL, GNAS, KCNJ11, CARTPT, BMPR1A, NDUFAF2, HSPG2, HLA-DRB1, SLC2A1, CASR, LEP, AGT, GJA1, SNCA, PPARG, ESR1, VPS11, BLK, PPP2R1A, INSR, PRKAR1A, PTPN11, FLNA, MTOR, NDN, SOS1, SOX2, ITPR2, PCSK1, PAX8, CBL, CREBBP, HADH, SLC2A2, NEU1, SLC25A4, AVPR2, HNF4A, GLIS3, GHSR, DNM2, IL6, NOS3, AKT1, HRAS, EGFR, BMPER, TSHR, PDX1, GLI2, ABCC8, NR0B2, IGF1, CHD7, POMC, STAT3, CFTR, PIK3R1, INS, TRH, RUNX2, SF3B4, GCK, SHH

BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LEOPARD SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, 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, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, ANGELMAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OPSISMODYSPLASIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEPHROTIC SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, NEPHRONOPHTHISIS 1, JUVENILE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PARKINSON DISEASE 4, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 12, 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, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPERTHYROIDISM, NONAUTOIMMUNE, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, ENCEPHALOPATHY, NEONATAL SEVERE, MEIER-GORLIN SYNDROME 4, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COFFIN-SIRIS SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?LICHTENSTEIN-KNORR 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}, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, SMED STRUDWICK TYPE, ANDROGEN INSENSITIVITY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ABCD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES INSIPIDUS, NEPHROGENIC, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY 9, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, BRCA2, TRIM32, PDE4D, ADRB2, PRKACA, ACTB, GNAS, CIITA, PIK3CA, CTSA, KLF1, AGT, PPARG, P4HB, PDE11A, SOX2, KDM1A, MYH7, EFEMP2, CLASP1, COL1A1, DNM2, CDT1, PTPN11, NOTCH1, PRF1, TGFBR2, PDGFRB, SMAD4, CREBBP, COL2A1, MUSK, ACTA1, SOX9, FBLN5, AR, SMARCE1, IGF2, ZAP70, PIK3R2, IKBKG, MTOR, FGFR1, LEP, MECP2, KIF5C, CBL, ORAI1, TUBB4A, MMP13, STAT1, PDE3A, AVPR2, SPARC, TGFBR1, GLI3, EZH2, TSHR, SLC7A7, PAPSS2, RPS6KA3, STAT3, PTPRC, INS, ABCC8, SOS2, GATA1, FCGR2A, STIM1, ALDOA, GJA1, IGF1, KIF2A, HLA-DRB1, TGFB3, CASR, GNA11, HNF4A, PPP2R1A, HRAS, BRCA1, VPS11, PRKAR1A, AKT1, KRAS, ITPR2, AIP, CFTR, NPHS1, EGFR, DCTN1, IHH, COL1A2, SNCA, RAD51C, EFNB1, PTEN, POMC, INPPL1, DLX5, GSC, LCK, NRAS, FLNA, MYH11, SLC9A1, NPHP1, KIF22, WRN, CENPE, GATA6, IGF1R, TGFB1, PCLO, TP63, MT-CO2, INSR, NOS3, COL6A1, SOS1, ITCH, FGFR2, BRAF, IL6, UBE3A, PTHLH, L1CAM, PCNA, RET, CTCF, EDNRB, LRP2, UCP1, VPS45, ALB, HSPG2, ESR1, DDX58, PIK3R1, MMP1, SHH

REVESZ SYNDROME, BARAITSER-WINTER SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOPHOSPHATASIA, CHILDHOOD, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, 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, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BLOOM SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, MEIER-GORLIN SYNDROME 1, NIEMANN-PICK DISEASE, TYPE A, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, ?BARDET-BIEDL SYNDROME 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, WARSAW BREAKAGE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NOONAN SYNDROME 4, 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, LEOPARD SYNDROME 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, RAPADILINO SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CEREBROOCULOFACIOSKELETAL SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MICROVILLUS INCLUSION DISEASE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, PYRUVATE KINASE DEFICIENCY, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, FILS SYNDROME, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CHYLOMICRON RETENTION DISEASE, ACETYL-COA CARBOXYLASE DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 2A, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, BRACHYDACTYLY, TYPE E, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), RABSON-MENDENHALL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORPUS CALLOSUM AGENESIS, CARPENTER SYNDROME, {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, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NOONAN SYNDROME 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, WARBURG MICRO SYNDROME 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, NESTOR-GUILLERMO PROGERIA SYNDROME, MALONYL-COA DECARBOXYLASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, OTOPALATODIGITAL SYNDROME, TYPE I, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE IX, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, BALLER-GEROLD SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MECKEL SYNDROME 12, {AUTISM, SUSCEPTIBILITY TO, 18}, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), XERODERMA PIGMENTOSUM, GROUP B, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, NICOLAIDES-BARAITSER SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ?AL-GAZALI-BAKALINOVA SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, GALACTOSEMIA, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, SMITH-MCCORT DYSPLASIA 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DE SANCTIS-CACCHIONE SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, {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}, BOOMERANG DYSPLASIA, ?SECKEL SYNDROME 8, SACCHAROPINURIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, WATSON SYNDROME, LESCH-NYHAN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ARTHROGRYPOSIS, DISTAL, TYPE 8, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, MYHRE SYNDROME, ?JOUBERT SYNDROME 22, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, CODAS SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BRACHYDACTYLY, TYPE D, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SMITH-KINGSMORE SYNDROME, 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, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

CA2, PDE4D, BRCA2, TRIM32, ADRB2, RAD21, ORC1, ACTB, GNAS, IKBKG, CDT1, BCAP31, RPL5, ALPL, ENPP1, SEPT9, PPARG, LEP, PDE11A, TRAPPC2, PRKAR1A, GALT, RECQL4, SMPD1, EIF4A3, IGHMBP2, CHD8, ARFGEF2, KIF7, NF1, PDE6D, MLYCD, PIK3CA, SOS1, ERCC2, OCRL, SMAD4, GTPBP3, DYNC2H1, KIF1A, NONO, ACTA1, SMARCA2, ATRX, TNNT3, KRAS, CASP8, NME1, DDX11, WRN, PIGT, PKLR, GCH1, ERCC3, FANCC, CIITA, RYR1, NOS3, TAF6, PEX6, GFM1, EXOSC8, KIF5C, MEGF10, LONP1, TPM2, EFTUD2, PNPLA8, IRF8, DVL1, PDE3A, TGFBR1, TGFB1, TAF1, ERCC5, ABCD4, FANCA, TNNT2, PPIB, GPD1, RAB18, DNM2, RPS6KA3, AGT, STAT3, BRAF, INS, DNM1L, ABCC8, AASS, SOS2, VPS33B, BANF1, DDX3X, GNA11, KIF14, NRAS, MT-ATP6, INPP5E, CLASP1, CBS, PEX19, KIF2A, HPRT1, ITPA, HLA-DRB1, HDAC6, CASR, CTDP1, RAB33B, MYO5B, KIF1B, SMARCAL1, SSR4, MTOR, AKT1, SMARCA4, GALE, PRKDC, ACACA, DDX58, NPHS1, EGFR, ATP5A1, DCTN1, DNA2, CDC6, RAD51C, PTEN, ECHS1, ABCB11, ADA, DDOST, TUBB4A, SKIV2L, POLR3B, POLA1, VDR, PEX1, AR, FLNA, VPS45, SMARCB1, RAB23, MYH7, JAGN1, MYH3, KIF22, PIK3R2, CENPE, ATM, CFTR, IFT27, ABCA3, CASK, STAT1, TBCE, INSR, PTPN11, POLE, BLM, TINF2, IL6, UBE3A, ABCC9, GPX4, RTEL1, PCNA, ERCC6, RIT1, PNP, TUFM, HRAS, HACE1, HOXD13, CDK5RAP2, DNAJC3, MYH8, NHP2, NR0B2, ATR, HSPG2, SAR1B, ESR1, TRIM37, FLNB, PEX5, PIK3R1

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, REVESZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 15, ?NARCOLEPSY 1, ?LICHTENSTEIN-KNORR SYNDROME, KOWARSKI SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, ?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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, COLE-CARPENTER SYNDROME 1, 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, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, MITCHELL-RILEY SYNDROME, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, LEOPARD SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE VIII, ESTROGEN RESISTANCE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, OTOPALATODIGITAL SYNDROME, TYPE II, PYCNODYSOSTOSIS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, DIABETES INSIPIDUS, NEPHROGENIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEPRECHAUNISM, LARSEN SYNDROME, BOOMERANG DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, 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, ABCD SYNDROME, OCULOECTODERMAL SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 6, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, VELOCARDIOFACIAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, PARKINSON DISEASE 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, PRADER-WILLI SYNDROME, EIKEN SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, HARTNUP DISORDER, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ARGININEMIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, NEPHRONOPHTHISIS 1, JUVENILE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PANCREATIC AGENESIS 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, CULLER-JONES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, MULTIPLE ENDOCRINE NEOPLASIA IIB, DIGEORGE SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, RESTRICTIVE DERMOPATHY, LETHAL, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MUSCULAR DYSTROPHY, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ATELEIOTIC DWARFISM, MACROCEPHALY/AUTISM SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {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, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, GROWTH HORMONE INSENSITIVITY, PARTIAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, AMYOTROPHY, HEREDITARY NEURALGIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, APPARENT MINERALOCORTICOID EXCESS, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, INCONTINENTIA PIGMENTI, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, 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}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, WATSON SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 12, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, SENIOR-LOKEN SYNDROME 9, MYHRE SYNDROME, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KEPPEN-LUBINSKY SYNDROME, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LEOPARD SYNDROME 1, DYSAUTONOMIA, FAMILIAL, DIAMOND-BLACKFAN ANEMIA 1, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, SLC34A1, NEU1, WNT5A, PDE4D, ADRB2, MAP3K1, GHRL, GNAS, IKBKG, BMPR1A, RPL5, CYP11B2, TBX3, AGT, SEPT9, PPARG, TAF6, SOX2, OTX2, PRKAR1A, FLNA, MUSK, KISS1R, TRAF3IP1, BTK, GLI2, HADH, VPS11, NF1, NPR2, PROK2, COL1A1, DNM2, PIK3CA, SERPINH1, NOTCH1, PRF1, BMPER, JAG1, TGFBR2, RFX6, SMAD4, CREBBP, GRID2, P3H1, IKBKAP, SLC6A19, SF3B4, AQP2, ACTA1, SOX9, KRT5, CHD7, KRAS, CBL, CASP8, NKX2-5, AR, P4HB, ZAP70, PKLR, THRA, BUB1B, CIITA, IL21, FGFR1, SNAP29, BLK, LEP, CARTPT, KIF5C, ESR1, MEGF10, SMARCE1, LMNA, MMP13, NR0B1, EFTUD2, SUCLA2, AVPR2, GLIS3, TGFBR1, NDUFS2, TAF1, UCP1, ROR2, TMEM173, NLRC4, TSHR, FGF23, IRF8, RPS6KA3, TP63, DVL3, TBX1, ACD, DNM1L, ABCC8, ARG1, PAX8, KCNJ11, KCNJ6, SLC2A2, SMARCA2, IGF1, CTSK, CTNS, NDUFAF2, HLA-DRB1, TGFB3, LRP5, CASR, GCK, HNF4A, EDNRB, HSD11B2, MTOR, NDN, PTHLH, AKT1, SMARCA4, INPPL1, PCSK1, IGF1R, NPHS1, EGFR, SLC25A4, IKBKB, DCTN1, TWIST1, SNCA, ZBTB16, RPS19, PTEN, GH1, LZTR1, POMC, HCRT, BRAF, SHANK3, DDOST, ITPR2, RUNX2, LCK, SSR4, SLC2A1, UQCC2, MYH11, SLC9A1, PTS, BMPR1B, JAGN1, PIK3R2, TGFB1, NPHP1, PTPN11, ATM, NOD2, JAK3, CFTR, PCLO, STAT1, STAT3, MT-CO2, AHCY, INSR, NOS3, SOS1, PTPRC, IL6, UBE3A, INS, PCNA, TRH, GHSR, RET, GRM1, PTH1R, SOX11, HRAS, HACE1, GJA1, PRKACA, ADA, PDX1, OCLN, NR0B2, ALB, HSPG2, NLRP3, PIK3R1, TINF2, FLNB, CASK, SHH

REVESZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 15, ?LICHTENSTEIN-KNORR SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, 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, MYOTUBULAR MYOPATHY, X-LINKED, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, DYSAUTONOMIA, FAMILIAL, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ULNAR-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, PARKINSON DISEASE 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, OPSISMODYSPLASIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ARGININEMIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, PANCREATIC AGENESIS 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, RESTRICTIVE DERMOPATHY, LETHAL, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MUSCULAR DYSTROPHY, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, LOEYS-DIETZ SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?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}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, WATSON SYNDROME, ABCD SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, SENIOR-LOKEN SYNDROME 9, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CA2, PDE4D, DNM2, WNT5A, LMNA, ADRB2, GHRL, GNAS, IKBKG, CYP11B2, TBX3, AGT, PPARG, OTX2, PRKAR1A, KISS1R, GJA1, NPR2, PROK2, COL1A1, NEU1, PIK3CA, CREBBP, IKBKAP, MUSK, ACTA1, DVL3, KRAS, MEGF10, AR, NOS3, CIITA, IL21, NOD2, BLK, LEP, KIF5C, CBL, MMP13, HLA-DRB1, SUCLA2, AVPR2, DNM1L, TGFBR1, TMEM173, NLRC4, TSHR, STAT3, ACD, ARG1, TRAF3IP1, IGF1, KRT5, CARTPT, STAT1, TGFB3, FLNA, CASR, GCK, EDNRB, PTHLH, AKT1, SMARCA4, INPPL1, CFTR, IKBKB, DCTN1, TWIST1, SNCA, NF1, POMC, SHANK3, RUNX2, LCK, SLC2A1, ZAP70, SLC9A1, BMPR1B, JAGN1, PIK3R2, TGFB1, PTPN11, ATM, AHCY, IGF1R, CASK, ESR1, PRKACA, INSR, SOS1, IL6, INS, PCNA, TRH, CTNS, SOX11, PTEN, HRAS, EGFR, PDX1, OCLN, NR0B2, ALB, HSPG2, NLRP3, PIK3R1, TINF2, SHH

HETEROTAXY, VISCERAL, 5, CAMURATI-ENGELMANN DISEASE, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, DYSAUTONOMIA, FAMILIAL, ABCD SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MANDIBULOACRAL DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, CARPENTER SYNDROME 2, CZECH DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MOWAT-WILSON SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CRANIOFRONTONASAL DYSPLASIA, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TARSAL-CARPAL COALITION SYNDROME, KEUTEL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PARKINSON DISEASE 4, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, MUSCULAR DYSTROPHY, CONGENITAL, DIGEORGE SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, 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, HYPERPARATHYROIDISM, NEONATAL, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOCOSTAL DYSOSTOSIS 5, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {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}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, 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, LEGG-CALVE-PERTHES DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PROTEUS SYNDROME, SOMATIC

ACTA1, LMNA, TGFBR1, FLNA, TAF1, SMARCA4, NODAL, TBX6, PTPRC, IGF1, ADA, TGFB1, PIK3CA, NOTCH1, GATA6, LRP5, CASR, AGT, SNCA, FGFR1, ESR1, OTX2, PRKAR1A, NOS3, AKT2, AKT1, SOX2, ZEB2, PRKDC, WNT5A, COL2A1, IL6, NOG, MEGF8, LRP2, CLASP1, IKBKAP, INS, NPR2, RET, WDPCP, TWIST1, GLI3, SOS1, EDNRB, ITCH, EZH2, MGP, PTEN, NR0B2, CREBBP, POMC, HSPG2, EFNB1, STAT3, SHH, TBX1, ACD, RUNX2, SOS2

BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, CZECH DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, 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, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, ?LICHTENSTEIN-KNORR SYNDROME, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LEOPARD SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?IMMUNODEFICIENCY 22, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, ANGELMAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, 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, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, NEPHRONOPHTHISIS 1, JUVENILE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PARKINSON DISEASE 4, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 12, 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, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPERTHYROIDISM, NONAUTOIMMUNE, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, MEIER-GORLIN SYNDROME 4, ACROCAPITOFEMORAL DYSPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOSIALIDOSIS, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COFFIN-SIRIS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, {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}, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ABCD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY 9, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, BRCA2, TRIM32, PDE4D, ADRB2, PRKACA, ACTB, GNAS, CIITA, PIK3CA, CTSA, KLF1, AGT, PPARG, P4HB, PDE11A, SOX2, KDM1A, MYH7, EFEMP2, CLASP1, COL1A1, DNM2, CDT1, PTPN11, NOTCH1, PRF1, TGFBR2, PDGFRB, SMAD4, CREBBP, COL2A1, MUSK, ACTA1, SOX9, FBLN5, AR, SMARCE1, WRN, ZAP70, PIK3R2, IKBKG, MTOR, FGFR1, LEP, MECP2, KIF5C, CBL, ORAI1, TUBB4A, MMP13, STAT1, PDE3A, PAPSS2, SPARC, TGFBR1, GLI3, EZH2, TSHR, SLC7A7, RPS6KA3, STAT3, PTPRC, INS, ABCC8, SOS2, GATA1, FCGR2A, STIM1, ALDOA, GJA1, IGF1, KIF2A, HLA-DRB1, TGFB3, CASR, GNA11, HNF4A, PPP2R1A, HRAS, VPS11, PRKAR1A, AKT1, KRAS, ITPR2, AIP, CFTR, NPHS1, EGFR, DCTN1, IHH, COL1A2, SNCA, RAD51C, EFNB1, PTEN, POMC, INPPL1, DLX5, GSC, LCK, NRAS, FLNA, MYH11, SLC9A1, NPHP1, KIF22, IGF2, CENPE, GATA6, IGF1R, TGFB1, PCLO, TP63, MT-CO2, INSR, NOS3, COL6A1, SOS1, ITCH, FGFR2, BRAF, IL6, UBE3A, PTHLH, L1CAM, PCNA, RET, CTCF, EDNRB, LRP2, UCP1, VPS45, ALB, HSPG2, ESR1, DDX58, PIK3R1, MMP1, SHH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, REVESZ SYNDROME, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, COLE-CARPENTER SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, EVEN-PLUS SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, NICOLAIDES-BARAITSER SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, COENZYME Q10 DEFICIENCY, PRIMARY, 2, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLUTARICACIDURIA, TYPE I, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, MOLYBDENUM COFACTOR DEFICIENCY A, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, COENZYME Q10 DEFICIENCY, PRIMARY, 7, MOLYBDENUM COFACTOR DEFICIENCY B, OGDEN SYNDROME, MASA SYNDROME, CRASH SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE

TUFM, SMARCA2, KRAS, UROS, LIAS, PTS, QDPR, SPR, P4HB, PDHA1, GCH1, MOCS2, CASK, PDSS1, PNPO, ALAD, COX10, NADK2, ACACA, COQ4, ARFGEF2, COQ9, IBA57, SUCLA2, L1CAM, PCNA, COX15, ELOVL4, MLYCD, COQ7, PNP, MOCS1, GCDH, ASPM, HSPA9, FANCA, NAA10, STAT3, TINF2, INS, DHFR, MTOR, MT-CO1

REVESZ SYNDROME, BARAITSER-WINTER SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOPHOSPHATASIA, CHILDHOOD, SHORT SYNDROME, 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, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BLOOM SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, 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, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, MEIER-GORLIN SYNDROME 1, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, ?BARDET-BIEDL SYNDROME 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, WARSAW BREAKAGE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, LEOPARD SYNDROME 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, RAPADILINO SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, CEREBROOCULOFACIOSKELETAL SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?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, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, FILS SYNDROME, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, COFFIN-SIRIS SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CHYLOMICRON RETENTION DISEASE, ACETYL-COA CARBOXYLASE DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 2A, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, BRACHYDACTYLY, TYPE E, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), RABSON-MENDENHALL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CORPUS CALLOSUM AGENESIS, CARPENTER SYNDROME, {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, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, NOONAN SYNDROME 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, WARBURG MICRO SYNDROME 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, NESTOR-GUILLERMO PROGERIA SYNDROME, MALONYL-COA DECARBOXYLASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CORNELIA DE LANGE SYNDROME 4, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, OTOPALATODIGITAL SYNDROME, TYPE I, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE IX, COFFIN-SIRIS SYNDROME 4, BALLER-GEROLD SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MECKEL SYNDROME 12, {AUTISM, SUSCEPTIBILITY TO, 18}, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), XERODERMA PIGMENTOSUM, GROUP B, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, 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, NICOLAIDES-BARAITSER SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ?AL-GAZALI-BAKALINOVA SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, GALACTOSEMIA, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, SMITH-MCCORT DYSPLASIA 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DE SANCTIS-CACCHIONE SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, {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}, ?SECKEL SYNDROME 8, SACCHAROPINURIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, WATSON SYNDROME, LESCH-NYHAN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ARTHROGRYPOSIS, DISTAL, TYPE 8, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, MYHRE SYNDROME, ?JOUBERT SYNDROME 22, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, CODAS SYNDROME, BRACHYDACTYLY, TYPE D, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SMITH-KINGSMORE SYNDROME, 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, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

CA2, PDE4D, BRCA2, TRIM32, ADRB2, RAD21, ORC1, ACTB, GNAS, IKBKG, CDT1, BCAP31, RPL5, ALPL, ENPP1, SEPT9, PPARG, PDE11A, TRAPPC2, PRKAR1A, GALT, RECQL4, HPRT1, EIF4A3, IGHMBP2, CHD8, ARFGEF2, KIF7, NF1, PDE6D, MLYCD, PIK3CA, SOS1, ERCC2, OCRL, HOXD13, MYH3, GTPBP3, DYNC2H1, KIF1A, NONO, ACTA1, SMARCA2, ATRX, TNNT3, KRAS, NME1, DDX11, WRN, PIGT, NOS3, GCH1, ERCC3, FANCC, CIITA, RYR1, TAF6, PEX6, GFM1, EXOSC8, KIF5C, MEGF10, LONP1, TPM2, EFTUD2, PDE3A, IRF8, DVL1, MYH8, TGFBR1, TGFB1, TAF1, ERCC5, ABCD4, FANCA, TNNT2, PPIB, RAB18, DNM2, RPS6KA3, AGT, STAT3, BRAF, INS, DNM1L, ABCC8, AASS, SOS2, VPS33B, BANF1, DDX3X, GNA11, KIF14, NRAS, MT-ATP6, SMAD4, CLASP1, CBS, PEX19, KIF2A, ITPA, HLA-DRB1, HDAC6, CASR, CTDP1, RAB33B, MYO5B, KIF1B, SMARCAL1, SSR4, MTOR, AKT1, SMARCA4, GALE, PRKDC, ACACA, DDX58, UBE3A, EGFR, ATP5A1, DCTN1, DNA2, CDC6, RAD51C, PTEN, ABCB11, DDOST, TUBB4A, SKIV2L, POLR3B, POLA1, VDR, PEX1, AR, FLNA, NR0B2, SMARCB1, RAB23, MYH7, JAGN1, PIK3R2, KIF22, CENPE, ATM, CFTR, IFT27, ABCA3, CASK, STAT1, TBCE, INSR, PTPN11, POLE, BLM, TINF2, IL6, ABCC9, GPX4, RTEL1, PCNA, ERCC6, RIT1, PNP, HRAS, HACE1, CDK5RAP2, DNAJC3, ADA, NHP2, VPS45, ATR, SAR1B, ESR1, TRIM37, TUFM, PEX5, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PSEUDOACHONDROPLASIA, CZECH DYSPLASIA, ACHONDROPLASIA, ?STICKLER SYNDROME, TYPE V, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?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, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, CATSHL SYNDROME, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, HYPOPHOSPHATASIA, INFANTILE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RETT SYNDROME, CONGENITAL VARIANT, PSEUDOHYPOPARATHYROIDISM IA, DIAPHANOSPONDYLODYSOSTOSIS, RENAL CYSTS AND DIABETES SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, RAINE SYNDROME, MEND SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), LANGER MESOMELIC DYSPLASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, BRACHYDACTYLY, TYPE A1, C, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, FRANK-TER HAAR SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, PRADER-WILLI SYNDROME, TARSAL-CARPAL COALITION SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, BRACHYDACTYLY, TYPE E, RABSON-MENDENHALL SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 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}, OSTEOGENESIS IMPERFECTA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, PANCREATIC AGENESIS 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, COFFIN-SIRIS SYNDROME 4, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, EIKEN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, MUENKE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, IMAGE SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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}, GELEOPHYSIC DYSPLASIA 2, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, ACROMICRIC DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LERI-WEILL DYSCHONDROSTEOSIS, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE XV, SCHNECKENBECKEN DYSPLASIA, PALLISTER-HALL SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BRACHYDACTYLY, TYPE D, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, PHEX, WNT5A, COL1A1, ACTB, GNAS, GLI3, COL3A1, SMARCA4, EBP, TBX3, AGT, COL11A2, PPARG, COL5A1, TRAPPC2, PTHLH, BMP1, MYH7, ARSE, NOG, SLC35D1, TERT, COL10A1, PIK3CA, SIX3, BMPER, JAG1, WNT4, TNFRSF11B, IGF1, CREBBP, MATN3, COL2A1, SF3B4, PTEN, EVC, WNT7A, CHD7, KRAS, GLI2, NKX2-5, SP7, IGF2, NOS3, GAS1, BUB1B, MTOR, FGFR1, COL7A1, COL9A2, COMP, SPARC, PAPSS2, NKX3-2, TGFBR1, ZBTB16, GSC, FGF23, RPS6KA3, STAT3, DDR2, INS, PAX8, FAM20C, TAPT1, ALPL, GJA1, SOX9, HNF1B, SMAD4, EXT1, PTH1R, ACAN, GNA11, ANKH, PPP2R1A, HES7, GDF5, NDN, AKT1, SOX2, PRKDC, SHOX, IGF1R, BMPR1A, NPHS1, FBN1, SH3PXD2B, IHH, COL1A2, FBN2, CDKN1C, SDC3, HOXD13, FGFR3, POMC, DLX5, RUNX2, VDR, FLNA, SMARCB1, NODAL, FOXG1, TGFB1, COL5A2, MC4R, GATA6, EIF2AK3, TP63, INSR, TRPS1, NOTCH1, SMARCA2, WNT1, CACNA1S, GPC3, TBX6, SOX11, HRAS, EGFR, PDX1, BMPR1B, HSPG2, DLL3, ARSB, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, CAMURATI-ENGELMANN DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, CZECH DYSPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, STICKLER SYNDROME, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, FUHRMANN SYNDROME, STICKLER SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, 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, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, LEGG-CALVE-PERTHES DISEASE, KEUTEL SYNDROME, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, FIBROCHONDROGENESIS 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MARSHALL SYNDROME

THRA, COL2A1, ACAN, COL11A1, BMP1, SOX9, BMPR1B, ROR2, MGP, IGF1, CREBBP, TGFBR1, WNT7A, TGFB1, WNT5A, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CZECH DYSPLASIA, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN 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, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, CATSHL SYNDROME, METATROPIC DYSPLASIA, HYPOPHOSPHATASIA, INFANTILE, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, PYCNODYSOSTOSIS, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RETT SYNDROME, CONGENITAL VARIANT, PSEUDOHYPOPARATHYROIDISM IA, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), OSTEOGENESIS IMPERFECTA, TYPE IV, FUHRMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BRACHYDACTYLY, TYPE A1, C, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, FANCONI RENOTUBULAR SYNDROME 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, OPSISMODYSPLASIA, KEUTEL SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, VAN MALDERGEM SYNDROME 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SCLEROSTEOSIS 1, OSTEOGENESIS IMPERFECTA, TYPE I, COLE-CARPENTER SYNDROME 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, PEROXISOME BIOGENESIS DISORDER 3B, BRACHYDACTYLY, TYPE E2, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PARASTREMMATIC DWARFISM, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, VAN MALDERGEM SYNDROME 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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}, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OSTEOGENESIS IMPERFECTA, TYPE XVII, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CHONDRODYSPLASIA, GREBE TYPE, LEGG-CALVE-PERTHES DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, BRACHYOLMIA TYPE 3, HUNTINGTON DISEASE-LIKE 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, TGFBR1, ALDOA, SHH, FGFR3, SLC26A2, SLC34A1, COL1A1, IGF1, CREBBP, EXT1, SP7, FOXG1, WNT5A, TGFB1, PIK3R2, SOST, PEX12, JPH3, TGFB3, ALPL, CASR, INS, AGT, COL11A2, PPARG, EXT2, MAP3K1, PPP2R1A, NOG, INSR, GDF5, PTHLH, NOS3, COL6A1, WNT7A, AKT1, BMP1, INPPL1, ESR1, LEP, DLX5, IL6, THRA, MMP13, P4HB, BMPR1A, PEX13, SPARC, GNAS, IMPAD1, PEX7, FGF23, COL10A1, EIF2AK3, TWIST1, HRAS, EGFR, BMPER, SDC3, JAG1, CTSK, TRPV4, NPR2, BMPR1B, HSPG2, MGP, STAT3, DDR2, PPARGC1B, COL2A1, DCHS1, RUNX2, RYR1, FAT4

COLD-INDUCED SWEATING SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, KOWARSKI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CATSHL SYNDROME, CLOVE SYNDROME, SOMATIC, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, GROWTH HORMONE INSENSITIVITY, PARTIAL, LARON DWARFISM, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATELEIOTIC DWARFISM, LEOPARD SYNDROME 1, HYPOCHONDROPLASIA, RUBINSTEIN-TAYBI SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

LCK, GH1, GJA1, IGF1, TGFB1, NOS3, STAT1, AGT, IL21, ESR1, PPP2R1A, LEP, PTPN11, AKT1, IL6, CRLF1, IRF8, PIK3CA, NOTCH1, EGFR, FGFR3, CREBBP, STAT3, GHR, INS, SHH

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, GLUTARICACIDURIA, TYPE I, D-BIFUNCTIONAL PROTEIN DEFICIENCY, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HUTCHINSON-GILFORD PROGERIA, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPOPHOSPHATASIA, INFANTILE, ?UROCANASE DEFICIENCY, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, MANDIBULOACRAL DYSPLASIA, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, METHYLMALONYL-COA EPIMERASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, NOONAN SYNDROME 10, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 9, FANCONI RENOTUBULAR SYNDROME 2, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, ALKAPTONURIA, COFFIN-SIRIS SYNDROME 3, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, ARGININEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PERRAULT SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, KLEEFSTRA SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, GALACTOSE EPIMERASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 3B, TRIFUNCTIONAL PROTEIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE IX, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, ?FANCONI RENOTUBULAR SYNDROME 3, GLYCEROL KINASE DEFICIENCY, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), MUSCULAR DYSTROPHY, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, NICOLAIDES-BARAITSER SYNDROME, ALAGILLE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GABA-TRANSAMINASE DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, MENTAL RETARDATION, X-LINKED 72, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, SACCHAROPINURIA, HYPOPHOSPHATASIA, CHILDHOOD, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, HAWKINSINURIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, TYROSINEMIA, TYPE II, 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, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, FGFR1, LMNA, ADSL, ACADS, GPT2, AGT, PCCB, PPARG, LEP, ETHE1, MCCC2, IDUA, HADH, IBA57, PEX13, ASPM, JAG1, SMAD4, AUH, HGD, IKBKAP, MMAA, SMARCA2, TNNT3, SMARCA4, UROC1, CASP8, LZTR1, CD79A, NOS3, AKR1D1, ABAT, AMACR, UMPS, RAB39B, AKT2, HADHA, GK, NR1I3, PNPLA8, MCEE, GCDH, RPS10, FANCA, FGF23, CYP24A1, STAT3, INS, PAM16, AASS, TUFM, ALPL, SMPD1, FTCD, INPP5E, HNF4A, CBS, CYP27B1, STAT1, ARG1, NUP62, PPP2R1A, BRCA1, AKT1, INPPL1, VDR, PPIB, MUT, NPHS1, MCCC1, PEX5, ECHS1, QDPR, GALE, FAH, OTC, TAT, ASNS, SMARCB1, HCCS, PEX2, HSD17B4, ASL, PTPN11, PEX12, AHCY, HPD, HADHB, ESR1, MT-CO2, PCCA, CPS1, IL6, EHHADH, FANCC, PCNA, PEX19, PTEN, LIPA, ALB, PEX7, DHFR, MTOR, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ZIMMERMANN-LABAND SYNDROME 2, 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPHOSPHATASIA, INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, WARSAW BREAKAGE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 8, MICROVILLUS INCLUSION DISEASE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, PYRUVATE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FILS SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ROTHMUND-THOMSON SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), RABSON-MENDENHALL SYNDROME, CORPUS CALLOSUM AGENESIS, PEROXISOME BIOGENESIS DISORDER 4B, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MILLER SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ARTS SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE IX, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MECKEL SYNDROME 12, {AUTISM, SUSCEPTIBILITY TO, 18}, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, NICOLAIDES-BARAITSER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, ?AL-GAZALI-BAKALINOVA SYNDROME, CORNELIA DE LANGE SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, MENKES DISEASE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, {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}, SECKEL SYNDROME 1, ?SPASTIC PARAPLEGIA 63, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, HYPOPHOSPHATASIA, CHILDHOOD, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, WATSON SYNDROME, LESCH-NYHAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 1, INFANTILE CEREBELLAR-RETINAL DEGENERATION, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, ?SECKEL SYNDROME 8, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, CODAS SYNDROME, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, 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, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

BRCA2, PEX13, ADSL, ORC1, ATRX, BCAP31, RPL5, ALDOA, ATP6V1B2, ENPP1, NDUFS1, RECQL4, HPRT1, EIF4A3, MYH7, CHD8, KIF7, NF1, ERCC6, CDT1, ERCC2, UMPS, DYNC2H1, KIF1A, PTEN, ACTA1, SMARCA2, ACTB, TNNT3, SMARCA4, POMC, AR, DDX11, WRN, PKLR, ERCC3, SKIV2L, TAF6, PEX6, EXOSC8, KIF5C, MEGF10, LONP1, CHCHD10, SLC25A13, FANCC, TAF1, DPYD, ALPL, ABCD4, FANCA, TNNT2, AVPR2, RPS6KA3, STAT3, INS, ABCC8, MT-CO1, BANF1, DDX3X, KIF14, PRPS1, MT-ATP6, MYH3, CTNS, KIF2A, STAT1, HDAC6, CTDP1, TGFB1, MYO5B, KIF1B, BCS1L, PPP2R1A, SMARCAL1, BRCA1, AKT1, GALE, PRKDC, PPIB, CFTR, CDK5RAP2, ATP5A1, SLC25A4, DCTN1, DNA2, SNCA, CDKN1C, HSPA9, PEX5, RAD51C, ABCB11, DDOST, DHODH, ADK, NHP2, PEX1, IGHMBP2, JAGN1, KIF22, CENPE, ATM, ATP7A, ABCA3, CASK, MT-CO2, INSR, NOS3, POLE, BLM, ABCC9, MYH8, RTEL1, PCNA, CLASP1, PEX19, PMPCA, ACO2, AMPD2, DNAJC3, ADA, POLR3B, NR0B2, ATR, ESR1, PIK3R1, TUFM, SURF1

BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HETEROTAXY, VISCERAL, 5, ?LICHTENSTEIN-KNORR SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PSEUDOHYPOPARATHYROIDISM IC, DIAPHANOSPONDYLODYSOSTOSIS, OTOPALATODIGITAL SYNDROME, TYPE II, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ARTHROGRYPOSIS, DISTAL, TYPE 8, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LUJAN-FRYNS SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, OHDO SYNDROME, X-LINKED, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 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, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, FUMARASE DEFICIENCY, HOLOPROSENCEPHALY-9, BANNAYAN-RILEY-RUVALCABA SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, WARBURG MICRO SYNDROME 4, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, OPITZ-KAVEGGIA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?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}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ABCD SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MECKEL SYNDROME 4, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LEGG-CALVE-PERTHES DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DIAMOND-BLACKFAN ANEMIA 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PRKDC, SOX9, AR, LRP5, DVL1, SLC9A1, GJA1, NODAL, VRK1, CASP8, SMAD4, ADRB2, DVL3, MYH3, IKBKG, GRM1, NOS3, INSR, FLNA, STAT1, TGFB3, IGF1R, CASR, AGT, TGFB1, MTOR, SNCA, PPARG, NOD2, PRKACA, PPP2R1A, SOX2, LEP, PTHLH, HRAS, AKT2, PROK2, PRKAR1A, AKT1, BTK, SMARCA4, RBCK1, VDR, ESR1, WNT5A, FGFR1, BRCA1, DDX58, BMPR1A, LRP2, FH, MED17, GNAS, PCNA, CEP290, DNM1L, MMP1, TGFBR1, IL6, GLI3, PDE4D, PCNT, EDNRB, TMEM173, EGFR, BMPER, RPS19, ACTB, GLI2, SLC2A1, MED12, IGF1, POMC, TBC1D20, STAT3, CFTR, SHH, COL2A1, INS, TRH, RUNX2, EZH2, SF3B4, PTEN, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SHORT SYNDROME, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, WATSON 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, MEIER-GORLIN SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, WARSAW BREAKAGE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, FILS SYNDROME, {AUTISM, SUSCEPTIBILITY TO, 18}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, RAPADILINO SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 8, MICROVILLUS INCLUSION DISEASE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ROTHMUND-THOMSON SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, RABSON-MENDENHALL SYNDROME, CORPUS CALLOSUM AGENESIS, PEROXISOME BIOGENESIS DISORDER 4B, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NESTOR-GUILLERMO PROGERIA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE IX, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MECKEL SYNDROME 12, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, NICOLAIDES-BARAITSER SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, CORNELIA DE LANGE SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MEIER-GORLIN SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, 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}, ?SECKEL SYNDROME 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, HYPOPHOSPHATASIA, CHILDHOOD, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, PALLISTER-HALL SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, CODAS SYNDROME, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 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, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

BRCA2, ATRX, BCAP31, RPL5, ALPL, ENPP1, RECQL4, HPRT1, EIF4A3, MYH7, CHD8, KIF7, CLASP1, CDT1, ERCC2, DYNC2H1, KIF1A, NF1, ACTA1, SMARCA2, ACTB, TNNT3, SMARCA4, AR, LONP1, WRN, ERCC3, SKIV2L, TAF6, PEX6, EXOSC8, KIF5C, MEGF10, DDX11, FANCC, TAF1, ABCD4, FANCA, TNNT2, INS, ABCC8, BANF1, DDX3X, KIF14, MT-ATP6, MYH3, KIF2A, STAT1, HDAC6, CTDP1, MYO5B, KIF1B, SMARCAL1, BRCA1, PRKDC, PPIB, CFTR, ATP5A1, DCTN1, DNA2, RAD51C, PEX5, ABCB11, DDOST, NHP2, PEX1, IGHMBP2, JAGN1, KIF22, CENPE, ATM, ABCA3, ORC1, INSR, POLE, BLM, ABCC9, MYH8, RTEL1, PCNA, ERCC6, PTEN, CDK5RAP2, DNAJC3, POLR3B, NR0B2, ATR, ESR1, TUFM, PIK3R1

DIGEORGE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, WEAVER SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPONDYLOCOSTAL DYSOSTOSIS 5, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CZECH DYSPLASIA, HYPOPHOSPHATASIA, CHILDHOOD, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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}, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, STICKLER SYNDROME, TYPE I, ESTROGEN RESISTANCE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, VELOCARDIOFACIAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, LEGG-CALVE-PERTHES DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ULNAR-MAMMARY SYNDROME, CORNELIA DE LANGE SYNDROME 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ROBINOW SYNDROME

ALPL, GJA1, NKX2-5, ALB, NOS3, GATA6, TBX3, RYR1, NOTCH1, LHX3, WNT5A, NIPBL, TBX1, EZH2, TBX6, SOX11, TFAP2A, EGFR, SMAD4, POMC, ESR1, PIK3R1, COL2A1, INS, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE III, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PANCREATIC AGENESIS 1, PARKINSON DISEASE 4, COLE-CARPENTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, 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}, CORNELIA DE LANGE SYNDROME 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, COFFIN-SIRIS SYNDROME 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, FUHRMANN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CITRULLINEMIA, 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}, RABSON-MENDENHALL SYNDROME, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, OSTEOGENESIS IMPERFECTA, TYPE II, HYPERPARATHYROIDISM, NEONATAL, ARGININEMIA, EHLERS-DANLOS SYNDROME, TYPE IV, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JOHANSON-BLIZZARD SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, AR, ASNS, SMARCA4, WNT7A, HCCS, LAMTOR2, SMAD4, RAD21, COL5A2, P4HB, COL1A2, UBR1, HDAC6, IL6, CASR, AGT, SKIV2L, PPARG, INSR, COL3A1, COL6A1, AKT1, SOX2, CPS1, IGF1R, ASS1, PEX13, PCNA, COL1A1, PTEN, NOTCH1, EGFR, AARS, SNCA, DNMT3B, PDX1, PDGFRB, IGF1, STAT3, COL7A1, DNMT3A, INS, ARG1, MTOR, SHH

ATAXIA-TELANGIECTASIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ROBERTS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP P, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SECKEL SYNDROME 1, CORNELIA DE LANGE SYNDROME 4, ?SECKEL SYNDROME 8, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, NIJMEGEN BREAKAGE SYNDROME, SECKEL SYNDROME 2, OVARIAN DYSGENESIS 4, ATELEIOTIC DWARFISM, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, WIEDEMANN-STEINER SYNDROME, FILS SYNDROME, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 4, SC PHOCOMELIA SYNDROME, OMENN SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, MEIER-GORLIN SYNDROME 5, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, CORNELIA DE LANGE SYNDROME 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, RIDDLE SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

BRCA2, SLX4, SMARCA4, RAD21, RNF168, ATRX, WRN, ERCC1, ATM, DCLRE1C, AP4B1, NBN, ERCC4, MCM9, BRCA1, CDC6, SOX2, BLM, POLE, PRKDC, RPL11, ESCO2, EGFR, PCNA, DNA2, POLD1, SMC1A, MCM4, TERT, XRCC4, RAD51C, ATR, RBBP8, POLA1, FANCD2

BARDET-BIEDL SYNDROME 10, REVESZ SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, ACHONDROPLASIA, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NIJMEGEN BREAKAGE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN 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, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, WERNER SYNDROME, HYPERCALCEMIA, INFANTILE, STICKLER SYNDROME, TYPE I, CATSHL SYNDROME, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PSEUDOHYPOPARATHYROIDISM IC, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, SADDAN, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, BARDET-BIEDL SYNDROME 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, SECKEL SYNDROME 1, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, KBG SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FILS SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CORNELIA DE LANGE SYNDROME 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WEAVER SYNDROME, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, FUMARASE DEFICIENCY, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, BRACHYDACTYLY, TYPE E2, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, EIKEN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, BARAITSER-WINTER SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, {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}, ?SECKEL SYNDROME 8, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, SHORT SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, OMENN SYNDROME, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, LEGG-CALVE-PERTHES DISEASE, 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, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, 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, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

IHH, WNT5A, ADRB2, RAD21, ACTB, GNAS, RPL5, AGT, COL11A2, COL5A1, BBS4, PTHLH, CTC1, BBS1, RAD51C, FH, COL1A1, NBN, PDGFRB, CREBBP, CPS1, COL2A1, TGFBR2, ACTA1, SOX9, FGFR3, KRAS, AR, WRN, NOS3, THRA, DCLRE1C, MTOR, LEP, KCNJ1, PTH1R, EZH2, FANCA, RYR1, ANKRD11, STAT3, INS, GATA1, ALDOA, IGF1, CTSK, HLA-DRB1, CASR, PPP2R1A, CHRNA1, BBS10, BRCA1, AKT1, SMARCA4, PRKDC, ACACA, MRPL3, CFTR, NPHS1, LRP2, DNA2, POLD1, SMC1A, SNCA, TERT, PTEN, ECHS1, POMC, NOD2, ACP5, RUNX2, POLA1, SSR4, CUL4B, SLC2A1, LIPA, ALB, PTRF, TGFB1, ATM, CYP24A1, ERCC4, DKC1, POLE, BLM, IL6, RTEL1, ACD, PCNA, EGFR, NHP2, ZAP70, ATR, ESR1, TINF2, MMP1, CASK, PIK3R1

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ACHONDROPLASIA, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, WATSON SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, CAMURATI-ENGELMANN DISEASE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, 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, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PHELAN-MCDERMID SYNDROME, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, THANATOPHORIC DYSPLASIA, TYPE I, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, BRACHYDACTYLY, TYPE E2, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HYPOCHONDROPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 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}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, NOONAN SYNDROME 7, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, MYHRE SYNDROME, LEGG-CALVE-PERTHES DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, NRAS, AR, PPP2R5D, FGFR1, SMARCA4, SOX9, PTS, SMAD4, RAD21, HNF4A, DVL3, SHOC2, IKBKG, SHANK3, PTPN11, ATM, RPS6KA3, THRA, IL6, CASR, AGT, TGFB1, MTOR, PPARG, ESR1, MAP3K1, PCNA, PPP2R1A, PTHLH, ROR2, BRCA1, AKT1, KRAS, VDR, WNT5A, CREBBP, DLX5, DVL1, NPHS1, CASP8, IKBKB, MAP2K2, RET, PIK3CA, HRAS, EGFR, NDST1, SDC3, NOD2, NF1, FGFR3, IRF8, POMC, HSPG2, BRAF, STAT3, CFTR, COL2A1, NOTCH1, INS, PTEN, PIK3R1

REVESZ SYNDROME, BARAITSER-WINTER SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SHORT SYNDROME, 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, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BLOOM 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, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, ?BARDET-BIEDL SYNDROME 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), GLYCOGEN STORAGE DISEASE XII, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, WARSAW BREAKAGE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NESTOR-GUILLERMO PROGERIA 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, BECKWITH-WIEDEMANN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MICROVILLUS INCLUSION DISEASE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, PYRUVATE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, FILS SYNDROME, JOUBERT SYNDROME 12, ACROCALLOSAL 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, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CHYLOMICRON RETENTION DISEASE, ACETYL-COA CARBOXYLASE DEFICIENCY, OCULOECTODERMAL SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, BRACHYDACTYLY, TYPE E, RABSON-MENDENHALL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CORPUS CALLOSUM AGENESIS, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PSEUDOHYPOPARATHYROIDISM IA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, NOONAN SYNDROME 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, WARBURG MICRO SYNDROME 3, EVEN-PLUS SYNDROME, ?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, NOONAN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ARTHROGRYPOSIS, DISTAL, TYPE 8, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, OTOPALATODIGITAL SYNDROME, TYPE I, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE IX, COFFIN-SIRIS SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MECKEL SYNDROME 12, {AUTISM, SUSCEPTIBILITY TO, 18}, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), XERODERMA PIGMENTOSUM, GROUP B, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NICOLAIDES-BARAITSER SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, ?AL-GAZALI-BAKALINOVA SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, SMITH-MCCORT DYSPLASIA 2, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MENKES DISEASE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DE SANCTIS-CACCHIONE SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, {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}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ?SECKEL SYNDROME 8, SACCHAROPINURIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HYPOPHOSPHATASIA, CHILDHOOD, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, WATSON SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, DIABETES INSIPIDUS, NEPHROGENIC, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MEIER-GORLIN SYNDROME 1, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, MYHRE SYNDROME, ?JOUBERT SYNDROME 22, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, CODAS SYNDROME, BRACHYDACTYLY, TYPE D, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SMITH-KINGSMORE SYNDROME, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, 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, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

CA2, BRCA2, TRIM32, ADRB2, RAD21, PRKACA, ACTB, GNAS, IKBKG, PIK3CA, BCAP31, RPL5, ALDOA, ATP6V1B2, AGT, SEPT9, SSR4, TRAPPC2, PRKAR1A, RECQL4, EIF4A3, IGHMBP2, CHD8, TBCE, KIF7, NF1, PDE6D, CHCHD10, DNM2, CDT1, SOS1, ERCC2, OCRL, SMAD4, GTPBP3, DYNC2H1, KIF1A, NONO, ACTA1, SMARCA2, ATRX, TNNT3, KRAS, EGFR, POMC, NME1, DDX11, WRN, PIGT, PKLR, GCH1, ERCC3, CIITA, SKIV2L, TAF6, PEX6, GFM1, EXOSC8, KIF5C, MEGF10, LONP1, TPM2, EFTUD2, SUCLA2, SLC25A13, DVL1, FANCC, TGFBR1, TGFB1, TAF1, ALPL, ABCD4, TSHR, TNNT2, RAB18, AVPR2, RPS6KA3, ENPP1, STAT3, BRAF, INS, DNM1L, ABCC8, AASS, MT-CO1, VPS33B, BANF1, DDX3X, GNA11, KIF14, NRAS, MT-ATP6, MYH3, CLASP1, CBS, PEX19, KIF2A, ITPA, HLA-DRB1, HDAC6, CASR, CTDP1, RAB33B, MYO5B, KIF1B, BCS1L, PPP2R1A, SMARCAL1, PMPCA, AKT1, SMARCA4, PRKDC, ACACA, DDX58, PPIB, CDK5RAP2, ATP5A1, SLC25A4, DCTN1, DNA2, SNCA, CTNS, CDKN1C, FANCA, HSPA9, ORC1, PEX5, RAD51C, ABCB11, DDOST, TUBB4A, NDUFS1, POLR3B, PEX1, AR, FLNA, IRF8, VPS45, RAB23, MYH7, JAGN1, PIK3R2, KIF22, CENPE, ATM, SOS2, CFTR, ATP7A, IFT27, ABCA3, CASK, STAT1, MT-CO2, INSR, NOS3, POLE, BLM, IL6, ABCC9, MYH8, RTEL1, PCNA, ERCC6, RIT1, PTEN, HRAS, HACE1, HOXD13, ACO2, DNAJC3, NHP2, NR0B2, ATR, SAR1B, ESR1, PIK3R1, TINF2, TUFM, MTOR, SURF1

LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CULLER-JONES SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, HETEROTAXY, VISCERAL, 5, PALLISTER-HALL SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, MOWAT-WILSON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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}, BRACHYDACTYLY, TYPE E2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MYHRE SYNDROME, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, ABCD SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ACROMICRIC DYSPLASIA, MYOTUBULAR MYOPATHY, X-LINKED, NOONAN SYNDROME 7, GELEOPHYSIC DYSPLASIA 2, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, CARDIOFACIOCUTANEOUS SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ESTROGEN RESISTANCE, WEAVER SYNDROME, CAMURATI-ENGELMANN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, MECKEL SYNDROME 4, STIFF SKIN SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MARFAN LIPODYSTROPHY SYNDROME, TARSAL-CARPAL COALITION SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 2, VAN MALDERGEM SYNDROME 2, KABUKI SYNDROME 2, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CORNELIA DE LANGE SYNDROME 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, WEILL-MARCHESANI SYNDROME 2, DOMINANT, WIEDEMANN-STEINER SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, RET, PPARG, SOX2, IGSF1, SMAD4, BMPR1B, FAT4, WNT5A, TGFB1, TAF1, NOTCH1, CYP27B1, STAT1, TBX3, SMAD9, SNCA, GNA11, STAT3, PRKACA, POMC, OTX2, PTHLH, HRAS, BRCA1, SOS1, BTK, SMARCA4, KDM6A, VDR, ESR1, MYH7, FOXP1, IL6, NOG, NODAL, EGFR, FBN1, CEP290, DNM2, GSC, GLI3, AKT1, EDNRB, ITCH, EZH2, RUNX2, GLI2, ZEB2, TFAP2A, CREBBP, NEUROG3, HSPG2, TP63, KMT2A, PAX8, BRAF, INS, IGF1, SF3B4, TGFBR2, SHH

LOEYS-DIETZ SYNDROME 1, HETEROTAXY, VISCERAL, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, WEAVER SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, WIEDEMANN-STEINER SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PALLISTER-HALL SYNDROME, LOEYS-DIETZ SYNDROME 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CORNELIA DE LANGE SYNDROME 1, ARGININEMIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

STAT1, FOXP1, IL6, TBX3, IGF1, TGFBR2, PPARG, SMAD4, SOX2, NODAL, EGFR, STAT3, SOX9, EZH2, GLI3, ARG1, SF3B4, KMT2A, SHH, TP63

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PEELING SKIN SYNDROME 1, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, CZECH DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYHRE SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, MITCHELL-RILEY SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOPHOSPHATASIA, INFANTILE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL CYSTS AND DIABETES SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, RAINE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ARTHROGRYPOSIS, DISTAL, TYPE 8, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, LUJAN-FRYNS SYNDROME, CATSHL SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, OHDO SYNDROME, X-LINKED, PRADER-WILLI SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, 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, SERKAL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PANCREATIC AGENESIS 1, COACH SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OCULOECTODERMAL SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, DIGEORGE SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, NETHERTON SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CEREBROCOSTOMANDIBULAR SYNDROME, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, SED CONGENITA, 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CORNELIA DE LANGE SYNDROME 1, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, BECKWITH-WIEDEMANN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, NAIL-PATELLA SYNDROME, AYME-GRIPP SYNDROME, IMAGE SYNDROME, NEPHRONOPHTHISIS 11, OPITZ-KAVEGGIA SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?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}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ABCD SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ACROMICRIC DYSPLASIA, 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, OSTEOGENESIS IMPERFECTA, TYPE XV, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MECKEL SYNDROME 4, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MARFAN LIPODYSTROPHY SYNDROME, LEGG-CALVE-PERTHES DISEASE, XERODERMA PIGMENTOSUM, GROUP B, BANNAYAN-RILEY-RUVALCABA SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, BRACHYDACTYLY, TYPE D, GELEOPHYSIC DYSPLASIA 2, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

EZH2, PLOD3, WNT5A, IGSF1, COL1A1, ST14, RAD21, ACTB, GNAS, IKBKG, GLI3, COL1A2, ALPL, AGT, PPARG, LEP, OTX2, PTHLH, DSG1, KDM6A, AKT2, UCP3, NOG, ITCH, SMARCA4, NEUROG3, EFEMP2, JAG1, ERCC2, RFX6, SMAD4, CREBBP, COL2A1, SF3B4, NONO, ACTA1, SOX9, KRAS, GLI2, EGFR, LZTR1, SPINK5, AR, SP7, NOS3, THRA, ERCC3, FGFR1, SOX3, TAF6, BMPR1A, LHX3, DSP, MMP13, NR0B1, TGFBR1, TAF1, ROR2, ZBTB16, RPS6KA3, STAT3, TBX1, INS, IGF1, PAX8, GATA1, FAM20C, DDX3X, CDSN, VRK1, HNF1B, MYH3, SNRPB, DVL3, SMAD9, CTCF, CEP290, LMX1B, STAT1, FLNA, CASR, HNF4A, PPP2R1A, HRAS, NDN, AKT1, SOX2, PRKDC, FOXP1, IGF1R, MED12, LRP2, FBN1, IHH, LHX4, POLD1, CDKN1C, PEX5, FGFR3, POMC, MAF, BTK, DLX5, RUNX2, VDR, SLC2A1, KRT14, PTRF, TGFB1, GATA6, DVL1, TP63, NOTCH1, CPS1, FGFR2, IL6, WNT1, L1CAM, PCNA, RET, TBX6, SOX11, PTEN, EDNRB, HOXD13, TMEM67, WNT4, PDX1, MYH11, BMPR1B, HSPG2, ESR1, TGFBR2, SHH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TRYPSINOGEN DEFICIENCY, EVEN-PLUS SYNDROME, NICOLAIDES-BARAITSER SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, METHYLMALONIC ACIDURIA CBLB TYPE, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, AGAMMAGLOBULINEMIA 3, RENAL TUBULAR ACIDOSIS, DISTAL, AR, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RENAL TUBULAR ACIDOSIS, DISTAL, AD, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

SMARCA2, UROS, MMAB, CD79A, TCN2, NOS3, MTR, ALAD, COX10, SOS1, CBL, MRPL3, C10orf2, IL6, MUT, IBA57, LRP2, SUCLA2, TRH, SLC4A1, MMACHC, HRAS, ACO2, ABCD4, HSPA9, POR, PRSS1, ALB, STAMBP, LMBRD1, INS, COX15, MTRR, MMAA

STAR SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, COCKAYNE SYNDROME, TYPE B, ?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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, COLE-CARPENTER SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, LOEYS-DIETZ SYNDROME 2, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, MENTAL RETARDATION, X-LINKED 12/35, CRANIOLENTICULOSUTURAL DYSPLASIA, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, DIAMOND-BLACKFAN ANEMIA 8, ?IMMUNODEFICIENCY 22, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, DYSKERATOSIS CONGENITA, X-LINKED, DIAMOND-BLACKFAN ANEMIA 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, PARKINSON DISEASE 4, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CHYLOMICRON RETENTION DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, WILSON-TURNER SYNDROME, CITRULLINEMIA, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, ?DIAMOND-BLACKFAN ANEMIA 11, ACHONDROGENESIS, TYPE IA, DIAMOND-BLACKFAN ANEMIA 10, GALACTOSIALIDOSIS, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, BRACHYDACTYLY, TYPE A1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, IMMUNODEFICIENCY 12, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, WEAVER SYNDROME, EVEN-PLUS SYNDROME, FUMARASE DEFICIENCY, LOWE SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 3B, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, WARBURG MICRO SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), MUSCULAR DYSTROPHY, CONGENITAL, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, NICOLAIDES-BARAITSER SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CORNELIA DE LANGE SYNDROME 5, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DE SANCTIS-CACCHIONE SYNDROME, CORNELIA DE LANGE SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, LOEYS-DIETZ SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, LEUKODYSTROPHY, HYPOMYELINATING, 6, BARDET-BIEDL SYNDROME 2, RESTRICTIVE DERMOPATHY, LETHAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), EIKEN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, 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, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, 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, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DYSAUTONOMIA, FAMILIAL, LEUKODYSTROPHY, HYPOMYELINATING, 3, DIAMOND-BLACKFAN ANEMIA 1, HUNTINGTON DISEASE-LIKE 2, TYROSINEMIA, TYPE II, DENT DISEASE 2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

PDE4D, FAM58A, RPS26, WNT5A, SEC24D, ADRB2, DNAJC19, RAD21, PRKACA, BCAP31, RPL5, ALPL, AGT, PPARG, SSR4, TRAPPC2, PRKAR1A, CDC6, KMT2A, BBS1, SIX3, FH, TRIP11, PNPT1, DNM2, BBS2, COG6, EFEMP2, RPS19, TGFBR2, PDGFRB, CREBBP, VIPAS39, OCRL, IKBKAP, DYNC2H1, SF3B4, RPS7, PCNA, SHOC2, RPS28, SOX2, RBM8A, CBL, MAP2K2, NKX2-5, NME1, NOS3, RYR1, LEP, PEX6, ARFGEF2, DSP, MTM1, LMNA, ASS1, RBM10, JPH3, VPS33B, AAAS, TGFBR1, SLC4A1, CLP1, EZH2, TRNT1, AVPR2, CYP24A1, STAMBP, UPF3B, PTPRC, NOTCH1, INS, PAM16, MALT1, GATA1, BANF1, ALDOA, DKC1, GJA1, PEX1, SMAD4, SNRPB, DVL3, PEX19, STAT1, TGFB3, CASR, TBC1D20, SOX9, GNA11, NUP62, PPP2R1A, PMPCA, CTSA, VPS11, PTHLH, AKT1, SMARCA4, VDR, RPL35A, RPS17, AIMP1, NPHS1, EGFR, COG4, SLC25A4, DCTN1, IHH, RPS10, KISS1R, SNCA, PEX13, HSPA9, PEX5, QDPR, POMC, SNAP29, DDOST, TUBB4A, DLX5, STAT3, RUNX2, SUMF1, NHP2, LCK, AIP, TAT, THOC2, AR, FLNA, SMARCB1, HDAC8, ALB, PIK3R2, SEC23A, CENPE, PEX12, JAK3, DVL1, TGFB1, ESR1, MT-CO2, TRPS1, PTPN11, SMARCA2, IL6, UBE3A, RPL11, GATA6, NKX3-2, L1CAM, RPL26, STRADA, TRH, ERCC6, TBX6, PTH1R, PTEN, HRAS, PEX16, LRP2, POLR3B, VPS45, PEX2, SAR1B, PEX7, PIK3R1, C10orf2, TUFM, SHH

BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALSTROM SYNDROME, ?SECKEL SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, MEIER-GORLIN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, LOEYS-DIETZ SYNDROME 2, OGDEN SYNDROME, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, BARDET-BIEDL SYNDROME 16, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SECKEL SYNDROME 2, KENNY-CAFFEY SYNDROME, TYPE 1, FILS SYNDROME, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, COFFIN-SIRIS SYNDROME 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, BRACHYDACTYLY, TYPE E2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SECKEL SYNDROME 5, MEIER-GORLIN SYNDROME 3, WIEDEMANN-STEINER SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 6, 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, MEIER-GORLIN SYNDROME 2, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ?SECKEL SYNDROME 4, ENCEPHALOPATHY, NEONATAL SEVERE, MEIER-GORLIN SYNDROME 4, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, MYHRE SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OROFACIODIGITAL SYNDROME I, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MECKEL SYNDROME 4, XERODERMA PIGMENTOSUM, GROUP B, ?MICROPHTHALMIA, SYNDROMIC 1, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PROTEUS SYNDROME, SOMATIC

PEX5, PCNT, ORC4, CEP63, TGFBR1, PPP2R5D, TAF1, NDE1, MECP2, SMAD4, CREBBP, AR, AGT, PSMB8, TGFB1, ORC6, KIF2A, ATM, STAT1, ERCC3, PCNA, BUB1B, ESR1, PRKACA, CEP152, PPP2R1A, CEP164, KDM1A, SDCCAG8, PLK4, PTHLH, CDC6, BTK, CEP57, DYRK1A, ZEB2, POLE, VDR, TUBGCP6, MCM4, BRCA1, CFTR, TBCE, SOS1, ITCH, OFD1, CDK5RAP2, HCFC1, CEP290, DCTN1, CLASP1, DNM2, CDT1, AKT1, HRAS, EGFR, ZBTB16, PRKDC, ORC1, ACTB, FGD1, SMC1A, ALMS1, TERT, ATR, RPS6KA3, CTDP1, STAT3, NAA10, TGFBR2, TUBB4A, RBBP8, DHFR, CENPJ, PTEN, POLA1, SMARCB1

SCLEROSTEOSIS 1, PARKINSON DISEASE 4, CAMURATI-ENGELMANN DISEASE, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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}, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, MELNICK-NEEDLES SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), EIKEN SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, GLYCOGEN STORAGE DISEASE XII, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DYSAUTONOMIA, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, SERKAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, PROTEUS SYNDROME, SOMATIC

ALDOA, POMC, DHCR7, TGFB1, NOS3, CYP27B1, PTH1R, LRP5, AGT, PPARG, POU1F1, PTHLH, SOST, FLNA, AKT1, VDR, IL6, SNCA, POR, WNT4, CREBBP, PEX2, HSPG2, ESR1, IKBKAP, RUNX2, PTEN, SHH

BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIAMOND-BLACKFAN ANEMIA 6, NIJMEGEN BREAKAGE SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ATELEIOTIC DWARFISM, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, NEUROFIBROMATOSIS-NOONAN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 4, MEIER-GORLIN SYNDROME 1, SC PHOCOMELIA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MEIER-GORLIN SYNDROME 5, RUIJS-AALFS SYNDROME, WARSAW BREAKAGE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ATAXIA-TELANGIECTASIA, RAPADILINO SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, SECKEL SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FILS SYNDROME, ANGELMAN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MENTAL RETARDATION, X-LINKED 98, RIDDLE SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ROBERTS SYNDROME, WEAVER SYNDROME, LUSCAN-LUMISH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CORNELIA DE LANGE SYNDROME 4, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, COFFIN-SIRIS SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP B, 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, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, CORNELIA DE LANGE SYNDROME 1, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, CORNELIA DE LANGE SYNDROME 2, NEPHRONOPHTHISIS 15, DE SANCTIS-CACCHIONE SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, ?SECKEL SYNDROME 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, OVARIAN DYSGENESIS 4, WATSON SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, OMENN SYNDROME, AICARDI-GOUTIERES SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP T, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 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, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

BRCA2, EZH2, KMT2A, RAD21, ACTB, ERCC1, RPL5, DDX3X, RBBP8, RECQL4, IGHMBP2, ESCO2, NF1, ERCC6, FANCM, NBN, SPRTN, ERCC2, RNF168, RRM2B, PTEN, FANCD2, ATRX, SMARCA4, AR, WRN, ERCC3, TPM3, TAF6, DDX11, RNASEH2A, TAF1, ERCC5, CLPB, FANCA, SMC1A, AP4B1, TSR2, ERCC8, PAX8, BANF1, MGME1, UBE2A, SETD2, MECP2, UBE2T, MCM9, CEP164, BRCA1, AKT1, SOX2, PRKDC, POLG, ARID1B, DNA2, POLD1, CDC6, MCM4, TERT, ZBTB16, NONO, XRCC4, RAD51C, POLG2, KIAA2022, POLA1, FANCE, CUL4B, POLR3A, ATR, KIF22, ATM, TGFB1, ERCC4, ORC1, POLE, BLM, FANCC, RTEL1, PCNA, SLX4, DCLRE1C, SMARCB1, FANCL, EGFR, MYH11, GTF2H5, ESR1, TRIM37

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, REVESZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 15, BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, WATSON SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, DIGEORGE SYNDROME, PSEUDOACHONDROPLASIA, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BEARE-STEVENSON CUTIS GYRATA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, THANATOPHORIC DYSPLASIA, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE I, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, WOLFRAM 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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, BLOOM SYNDROME, WIEDEMANN-STEINER SYNDROME, MELNICK-NEEDLES SYNDROME, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ATELEIOTIC DWARFISM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, STICKLER SYNDROME, TYPE I, ?LICHTENSTEIN-KNORR SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, OHDO SYNDROME, X-LINKED, LEOPARD SYNDROME 3, CLOVE SYNDROME, SOMATIC, HYPOPHOSPHATASIA, INFANTILE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, KLEEFSTRA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, PHELAN-MCDERMID SYNDROME, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), KABUKI SYNDROME 2, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MENKES DISEASE, ATAXIA-TELANGIECTASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HELSMOORTEL-VAN DER AA SYNDROME, {AUTISM, SUSCEPTIBILITY TO, 18}, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ULNAR-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CEREBROOCULOFACIOSKELETAL SYNDROME 3, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ?IMMUNODEFICIENCY 22, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION, X-LINKED 102, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, BRACHYDACTYLY, TYPE A1, C, CATSHL SYNDROME, VELOCARDIOFACIAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, SHORT SYNDROME, ANGELMAN SYNDROME, FUHRMANN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CORNELIA DE LANGE SYNDROME 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, TARSAL-CARPAL COALITION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, BRACHYDACTYLY, TYPE E, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, RABSON-MENDENHALL SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, JOHANSON-BLIZZARD SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, OSTEOGENESIS IMPERFECTA, TYPE II, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, OMENN SYNDROME, ARGININEMIA, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, SERKAL SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, NEPHRONOPHTHISIS 1, JUVENILE, ?WEBB-DATTANI SYNDROME, IMMUNODEFICIENCY 12, PANCREATIC AGENESIS 1, AL-RAQAD SYNDROME, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, APERT SYNDROME, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, HOLOPROSENCEPHALY-9, NAIL-PATELLA SYNDROME, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CORNELIA DE LANGE SYNDROME 4, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, KNIEST DYSPLASIA, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, XERODERMA PIGMENTOSUM, GROUP B, MEIER-GORLIN SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE XIII, {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, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MYOTUBULAR MYOPATHY, X-LINKED, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OGDEN SYNDROME, SED CONGENITA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ENCEPHALOPATHY, NEONATAL SEVERE, GROWTH HORMONE INSENSITIVITY, PARTIAL, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ACROCAPITOFEMORAL DYSPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, IMAGE SYNDROME, LOEYS-DIETZ SYNDROME 1, COLD-INDUCED SWEATING SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, DESMOSTEROLOSIS, AYME-GRIPP SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OPITZ-KAVEGGIA SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, HYPERCALCEMIA, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, ASPARAGINE SYNTHETASE DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 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}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, MYHRE SYNDROME, PRADER-WILLI SYNDROME, ABCD SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, DIABETES INSIPIDUS, NEPHROGENIC, RETT SYNDROME, CONGENITAL VARIANT, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, 3MC SYNDROME 1, 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, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MECKEL SYNDROME 4, MUENKE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PALLISTER-HALL SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, 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, LEGG-CALVE-PERTHES DISEASE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, BANNAYAN-RILEY-RUVALCABA 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, BRACHYDACTYLY, TYPE D, DYSAUTONOMIA, FAMILIAL, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, 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, LEOPARD SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

DHCR24, PDE4D, DCPS, BRCA2, EZH2, POLR1A, UCP1, ADRB2, NAA10, RAD21, MAP3K1, ACTB, GHRL, GNAS, IKBKG, TWIST1, COL1A2, EIF2AK3, KLF1, DDX3X, TBX3, AGT, TP63, PPARG, FOXG1, SOX2, OTX2, PTHLH, MUSK, CDC6, PROP1, IL7R, BTK, PRKDC, PEX6, KMT2A, MMP1, CHD8, NOG, PTRH2, EFEMP2, PDE6D, IKBKAP, FANCA, PROK2, COL1A1, DNM2, PIK3CA, PTPN11, NEUROG3, NOTCH3, PRF1, BMPER, ERCC2, POR, SMAD4, HOXD13, WFS1, GHSR, RBCK1, WNT7A, GAS1, COMP, SF3B4, NF1, ARNT2, SMARCB1, ACTA1, VRK1, RAG1, CHD7, ECHS1, KRAS, KDM6A, GLI2, CASP8, EGFR, NKX2-5, POMC, NME1, SP7, PSMB8, CD79A, NOTCH2, THRA, ERCC3, ASNS, CIITA, MTOR, FGFR1, SHANK3, LEP, CEP290, LHX3, XRCC4, ARFGEF2, NR0B1, BMPR1A, CBL, SMARCE1, COL2A1, CRLF1, PYCR1, STAT1, VPS33B, NRAS, AVPR2, GLIS3, PDE3A, TGFBR1, IL6, CYP11B2, TAF1, ERCC5, ROR2, ALPL, NLRC4, TSHR, NKX3-2, GSC, GDF5, IRF8, RPS6KA3, RBBP8, STAT3, NUP62, FANCD2, TBX1, NOTCH1, INS, ARG1, PAX8, GATA1, MECP2, ALDOA, KRT5, DVL1, BMP1, SOX9, HNF1B, GLI3, IGF1, HNF4A, DVL3, GRM1, UBR1, LMX1B, HLA-DRB1, TGFB3, FLNA, CASR, GJA1, BCS1L, PPP2R1A, CREBBP, HRAS, BRCA1, NDN, AKT1, KMT2C, SMARCA4, VDR, WNT5A, CFTR, TINF2, MED12, NPHS1, LRP2, SLC25A4, IKBKB, PPP2R5D, IHH, ADRB3, LHX4, POLD1, SMC1A, SNCA, JAG1, CTNS, MALT1, CDKN1C, AARS, DNMT3B, HSPA9, ORC1, EFNB1, NONO, FGFR3, LZTR1, KCNH1, MAF, NOD2, DDOST, EIF4A3, TFAP2A, RUNX2, ITCH, POLA1, LCK, PCSK1, HESX1, AR, SLC2A1, MYH11, SLC9A1, MASP1, HCCS, TBX6, BMPR1B, PRNP, TGFB1, NPHP1, RFXANK, ATM, CYP24A1, GATA6, KMT2D, IGF1R, ATP7A, WNT1, STAMBP, MT-CO2, INSR, NOS3, SMARCA2, PCNT, BLM, PDGFRB, FGFR2, PTPRC, BRAF, LRP5, UBE2A, JAK3, GPX4, PCNA, POU1F1, RET, CTCF, SOX11, PTEN, EDNRB, HACE1, ACO2, WNT4, ADNP, PRKACA, ADA, PDX1, OCLN, NR0B2, SIX3, ALB, ESR1, TGFBR2, SHH, C10orf2, DHFR, PIK3R1

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, IMMUNODEFICIENCY 15, HETEROTAXY, VISCERAL, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?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, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, LOEYS-DIETZ SYNDROME 2, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, MENTAL RETARDATION, X-LINKED 99, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, CARPENTER SYNDROME 2, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, OSTEOGENESIS IMPERFECTA, TYPE IV, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BRACHYDACTYLY, TYPE A1, C, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACROCAPITOFEMORAL DYSPLASIA, TARSAL-CARPAL COALITION SYNDROME, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, OSTEOGLOPHONIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DENTAL ANOMALIES AND SHORT STATURE, WIEDEMANN-STEINER SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, 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, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CORNELIA DE LANGE SYNDROME 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, EHLERS-DANLOS SYNDROME, TYPE IV, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, IMAGE SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH 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}, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, MYHRE SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XVII, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHONDRODYSPLASIA, GREBE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PROTEUS SYNDROME, SOMATIC

GATA1, ACTA1, SOX9, GDF5, ALPL, TAF1, SHH, FBLN5, NODAL, PDE4D, COL1A1, SP7, NKX2-5, MAP3K1, DVL3, NOS3, TRPS1, TGFB1, GSC, BMPR1A, AR, CREBBP, TGFB3, DVL1, AGT, SMAD9, PPARG, ESR1, USP9X, PCNA, PPP2R1A, LTBP2, NOTCH1, LHX3, PRKAR1A, AKT1, KMT2A, KIF5C, PAX8, CBL, BRCA1, IHH, DLX5, IL6, NOG, FGFR1, COL3A1, SMAD4, EGFR, SPARC, TGFBR1, IKBKB, COL10A1, HDAC6, COL1A2, PTEN, HRAS, LTBP4, CDKN1C, NOTCH3, PRKACA, MEGF8, IGF1, PDGFRB, MYH11, LTBP3, BMPR1B, HSPG2, STAT3, PIK3R1, SOX2, INS, RUNX2, TGFBR2, HPGD, SMARCB1

BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, STAR SYNDROME, REVESZ SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, KOWARSKI SYNDROME, PSEUDOACHONDROPLASIA, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, GAUCHER DISEASE, PERINATAL LETHAL, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, MENTAL RETARDATION, X-LINKED 102, ATELOSTEOGENESIS, TYPE I, WOLFRAM SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, 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, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, WATSON SYNDROME, 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, TRANSALDOLASE DEFICIENCY, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, STICKLER SYNDROME, TYPE I, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, HUTCHINSON-GILFORD PROGERIA, CATSHL SYNDROME, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, NIEMANN-PICK DISEASE, TYPE A, LEOPARD SYNDROME 3, CAMURATI-ENGELMANN DISEASE, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LARON DWARFISM, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, WIEDEMANN-STEINER SYNDROME, WARSAW BREAKAGE SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, CORNELIA DE LANGE SYNDROME 1, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MEIER-GORLIN SYNDROME 5, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, OCULOECTODERMAL SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, DYSKERATOSIS CONGENITA, X-LINKED, ACETYL-COA CARBOXYLASE DEFICIENCY, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, FRANK-TER HAAR SYNDROME, SHORT SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, STRIATONIGRAL DEGENERATION, INFANTILE, PARKINSON DISEASE 4, SCLEROSTEOSIS 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DYSAUTONOMIA, FAMILIAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, RABSON-MENDENHALL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?MICROHYDRANENCEPHALY, ROBINOW SYNDROME, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?OSTEOGENESIS IMPERFECTA, TYPE XII, 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, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, KLEEFSTRA SYNDROME, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, IMAGE SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SED CONGENITA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, KNIEST DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MUSCULAR DYSTROPHY, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ATELEIOTIC DWARFISM, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, ALAZAMI SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COCKAYNE SYNDROME, TYPE B, GROWTH HORMONE INSENSITIVITY, PARTIAL, MYOTUBULAR MYOPATHY, X-LINKED, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MASA SYNDROME, CRASH SYNDROME, PARASTREMMATIC DWARFISM, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DE SANCTIS-CACCHIONE SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOSIALIDOSIS, MENTAL RETARDATION, X-LINKED 19, SINGLETON-MERTEN SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?PRECOCIOUS PUBERTY, CENTRAL, 1, LOEYS-DIETZ SYNDROME 5, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COFFIN-SIRIS SYNDROME 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, CLOVE SYNDROME, SOMATIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, ASPARAGINE SYNTHETASE DEFICIENCY, 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}, BOOMERANG DYSPLASIA, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), SMED STRUDWICK TYPE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, ABCD SYNDROME, GAUCHER DISEASE, TYPE II, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMMUNODEFICIENCY 12, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MYHRE SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CHOPS SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, PALLISTER-HALL SYNDROME, GAUCHER DISEASE, TYPE III, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, LOEYS-DIETZ SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, SMITH-KINGSMORE SYNDROME, TYROSINEMIA, TYPE II, 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, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ?LICHTENSTEIN-KNORR SYNDROME, PROTEUS SYNDROME, SOMATIC

UCP1, DNM2, POLR1A, LMNA, ADRB2, RAD21, MT-CO2, ACTB, GHRL, GNAS, IKBKG, CTSA, SMARCA4, AGT, PPARG, SSR4, SOX2, OTX2, PRKAR1A, ALB, CDC6, DDR2, BTK, HCFC1, KMT2A, MMP1, TBCE, TERT, ERCC6, PROK2, COL1A1, FAM58A, PIK3CA, SERPINH1, NOTCH1, EFEMP2, JAG1, MBTPS2, PDGFRB, SMAD4, WFS1, GHSR, COL2A1, CUL7, NF1, ACTA1, SHOC2, VLDLR, DVL3, ASNS, FGFR3, KRAS, CBL, MAP2K2, CREBBP, AR, ERCC2, SP7, TRPV4, IGF2, IGBP1, NOS3, THRA, MTOR, FGFR1, NOD2, LEP, COL1A2, AFF4, TALDO1, STT3A, SMARCE1, IKBKAP, NR1I3, MMP13, COMP, IRF8, DVL1, TGFBR1, TGFB3, TAF1, ROR2, CARTPT, TSHR, GSC, STRADA, RPS6KA3, TP63, PTPRC, ACD, ABCC8, SOS2, GPC3, DDX3X, DKC1, GJA1, NRAS, IGF1, HNF4A, EXT1, SMPD1, TBX6, GHR, CTCF, STAT1, HDAC6, LRP5, CASR, CTDP1, ARG1, NUP62, PPP2R1A, HRAS, BRCA1, CASP8, NDE1, AKT1, RIPK4, SLC9A1, VDR, WNT5A, PLK4, DDX58, DCTN1, NPHS1, EGFR, MED17, IKBKB, LARP7, PPP2R5D, EZH2, GLI3, KISS1R, SNCA, MALT1, CDKN1C, ZBTB16, RPS19, EFNB1, PTEN, BMPR1B, ECHS1, MUSK, POMC, SNAP29, CFTR, ZEB2, RUNX2, POLA1, LCK, TAT, FLNA, MYH11, DYRK1A, ACACA, PTS, PEX2, PIK3R2, SEC23A, P4HB, PTPN11, ATM, GATA6, IGF1R, EIF2AK3, TGFB1, STAT3, MAP3K1, PCNA, INSR, CENPE, COL6A1, SOS1, BLM, LRP4, BRAF, IL6, GBA, PIP5K1C, DOK7, PTHLH, L1CAM, INS, LAMTOR2, TRH, RET, GRM1, EDNRB, LRP2, DNAJC3, PRKACA, PDX1, OCLN, NR0B2, SH3PXD2B, ATR, HSPG2, ESR1, TGFBR2, DDX11, PIK3R1, TINF2, GH1, FLNB, SHH