GROWTH

Associated diseases: VERHEIJ SYNDROME, REVESZ SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, GLYCOGEN STORAGE DISEASE IC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?NARCOLEPSY 7, KOWARSKI SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43, ?STICKLER SYNDROME, TYPE V, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARTHROGRYPOSIS, DISTAL, TYPE 5, STICKLER SYNDROME, TYPE II, SECKEL SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, LUJAN-FRYNS SYNDROME, GLUTARICACIDURIA, TYPE I, ACRODERMATITIS ENTEROPATHICA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COLE-CARPENTER SYNDROME 2, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, CAMURATI-ENGELMANN DISEASE, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, MOLYBDENUM COFACTOR DEFICIENCY A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, BRUCK SYNDROME 1, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OROFACIODIGITAL SYNDROME VI, GRACILE BONE DYSPLASIA, ?UROCANASE DEFICIENCY, SALLA DISEASE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LARON DWARFISM, EXOSTOSES, MULTIPLE, TYPE 1, ?STEEL SYNDROME, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUIJS-AALFS SYNDROME, COACH SYNDROME, FILIPPI SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, WARSAW BREAKAGE SYNDROME, CATEL-MANZKE SYNDROME, CARPENTER SYNDROME 2, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, NATIVE AMERICAN MYOPATHY, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), VELOCARDIOFACIAL SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IC, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, MEND SYNDROME, RAPADILINO SYNDROME, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, PERRAULT SYNDROME 1, ACHONDROPLASIA, GLUTARIC ACIDURIA III, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, LANGER MESOMELIC DYSPLASIA, HYPERCHLORHIDROSIS, ISOLATED, BOHRING-OPITZ SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?MARDEN-WALKER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, FEINGOLD SYNDROME 2, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, SINGLETON-MERTEN SYNDROME 1, KBG SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GLYCOGEN STORAGE DISEASE IXC, WEILL-MARCHESANI-LIKE SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, EIKEN SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MUCOPOLYSACCHARIDOSIS TYPE IIID, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, WOLFRAM SYNDROME, HARTNUP DISORDER, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GLYCEROL KINASE DEFICIENCY, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, ACETYL-COA CARBOXYLASE DEFICIENCY, CARPENTER SYNDROME, CHIME SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, IMMUNODEFICIENCY 12, CORTISONE REDUCTASE DEFICIENCY 1, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?RETINAL DYSTROPHY AND OBESITY, KLEEFSTRA SYNDROME, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TRIFUNCTIONAL PROTEIN DEFICIENCY, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MUENKE SYNDROME, ?MECKEL SYNDROME 12, ?FANCONI RENOTUBULAR SYNDROME 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?OSTEOGENESIS IMPERFECTA, TYPE X, SCHNECKENBECKEN DYSPLASIA, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OPSISMODYSPLASIA, OLIVER-MCFARLANE SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, NICOLAIDES-BARAITSER SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, SENGERS SYNDROME, GROWTH HORMONE INSENSITIVITY, PARTIAL, MEIER-GORLIN SYNDROME 2, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, BARTTER SYNDROME, TYPE 4B, DIGENIC, CORNELIA DE LANGE SYNDROME 5, ?AL-GAZALI-BAKALINOVA SYNDROME, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, OGDEN SYNDROME, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?SECKEL SYNDROME 4, LEUKODYSTROPHY, HYPOMYELINATING, 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, BRACHYDACTYLY, TYPE E, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEBER CONGENITAL AMAUROSIS 1, GALACTOSIALIDOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, MUCOLIPIDOSIS III ALPHA/BETA, NAIL-PATELLA SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MENKES DISEASE, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, GABA-TRANSAMINASE DEFICIENCY, DESBUQUOIS DYSPLASIA 1, ?MICROHYDRANENCEPHALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, CORPUS CALLOSUM AGENESIS, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, MARSHALL-SMITH SYNDROME, SACCHAROPINURIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, VAN MALDERGEM SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, TARP SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, OVARIAN DYSGENESIS 4, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OSTEOGENESIS IMPERFECTA, TYPE VIII, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CARTILAGE-HAIR HYPOPLASIA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CITRULLINEMIA, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, DYGGVE-MELCHIOR-CLAUSEN DISEASE, DENT DISEASE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, XERODERMA PIGMENTOSUM, GROUP B, ABCD SYNDROME, ?DIARRHEA 7, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, FUMARASE DEFICIENCY, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, MUCOPOLYSACCHARIDOSIS IVA, ROBERTS SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ARTS SYNDROME, ?NARCOLEPSY 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 1, JUVENILE, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, SMED STRUDWICK TYPE, GLYCOGEN STORAGE DISEASE VI, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, WEISSENBACHER-ZWEYMULLER SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?SECKEL SYNDROME 6, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, SILVER-RUSSELL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, MYHRE SYNDROME, MECKEL SYNDROME 2, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WEAVER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, NEUROFIBROMATOSIS-NOONAN SYNDROME, BORJESON-FORSSMAN-LEHMANN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, ARTHROGRYPOSIS, DISTAL, TYPE 8, PERRAULT SYNDROME 3, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, {OBESITY, SUSCEPTIBILITY TO, BMIQ14}, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, HYPOPHOSPHATASIA, INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ANAUXETIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, GALLOWAY-MOWAT SYNDROME, STORMORKEN SYNDROME, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, KABUKI SYNDROME 2, PROPIONICACIDEMIA, PSEUDOHYPOPARATHYROIDISM IA, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE XVII, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, SESAME SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, OROFACIODIGITAL SYNDROME IV, ATAXIA-TELANGIECTASIA, MITCHELL-RILEY SYNDROME, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, {AUTISM, SUSCEPTIBILITY TO, 18}, RAINE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, BILE ACID MALABSORPTION, PRIMARY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, ISCHIOCOXOPODOPATELLAR SYNDROME, OMODYSPLASIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, C SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MUSCULAR DYSTROPHY, CONGENITAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 8, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, ?ABRUZZO-ERICKSON SYNDROME, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, CINCA SYNDROME, BRACHYDACTYLY, TYPE A1, C, DYSKERATOSIS CONGENITA, X-LINKED, PARASTREMMATIC DWARFISM, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, ARTHROGRYPOSIS, DISTAL, TYPE 3, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, TROYER SYNDROME, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, CATSHL SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, MENTAL RETARDATION, X-LINKED 98, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, ROIFMAN SYNDROME, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, COUSIN SYNDROME, EVEN-PLUS SYNDROME, GALACTOSEMIA, TRICHOHEPATOENTERIC SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IX, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, FRUCTOSE INTOLERANCE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MEVALONIC ACIDURIA, WHITE-SUTTON SYNDROME, NEPHROTIC SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MECKEL SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, GELEOPHYSIC DYSPLASIA 1, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HELSMOORTEL-VAN DER AA SYNDROME, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), SECKEL SYNDROME 5, SPONDYLOPERIPHERAL DYSPLASIA, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MUCOPOLYSACCHARIDOSIS TYPE IX, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, ALAZAMI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, ANDERSEN SYNDROME, LUSCAN-LUMISH SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, DESBUQUOIS DYSPLASIA 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MICROPHTHALMIA, SYNDROMIC 2, SED CONGENITA, ALAGILLE SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, HYPOCHONDROPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, APPARENT MINERALOCORTICOID EXCESS, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOPS SYNDROME, LOEYS-DIETZ SYNDROME 5, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COFFIN-SIRIS SYNDROME 1, TRYPSINOGEN DEFICIENCY, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, CEREBELLOFACIODENTAL SYNDROME, INCONTINENTIA PIGMENTI, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BARDET-BIEDL SYNDROME 5, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, DIGEORGE SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, PEROXISOME BIOGENESIS DISORDER 8B, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ESCOBAR SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, SMITH-MCCORT DYSPLASIA 2, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GELEOPHYSIC DYSPLASIA 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, LESCH-NYHAN SYNDROME, HUNTINGTON DISEASE-LIKE 2, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, 3MC SYNDROME 1, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, TYROSINEMIA, TYPE II, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, BOWEN-CONRADI SYNDROME, VAN MALDERGEM SYNDROME 2, BOOMERANG DYSPLASIA, SENIOR-LOKEN SYNDROME 9, FUHRMANN SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, SECKEL SYNDROME 7, {?OBESITY, SUSCEPTIBILITY TO, BMIQ18}, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, OMENN SYNDROME, BARDET-BIEDL SYNDROME 10, GLYCOGEN STORAGE DISEASE IV, OSTEOGENESIS IMPERFECTA, TYPE V, IMMUNODEFICIENCY 15, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PSEUDOACHONDROPLASIA, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, DIAMOND-BLACKFAN ANEMIA 5, GLASS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, HAJDU-CHENEY SYNDROME, 3-M SYNDROME 3, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, THANATOPHORIC DYSPLASIA, TYPE II, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP E, ?LICHTENSTEIN-KNORR SYNDROME, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, ?BARDET-BIEDL SYNDROME 19, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, AMYOTROPHY, HEREDITARY NEURALGIC, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, LOEYS-DIETZ SYNDROME 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, 3MC SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PALLISTER-HALL SYNDROME, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, IMMUNODEFICIENCY 19, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, SADDAN, DIAMOND-BLACKFAN ANEMIA 9, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, OROTIC ACIDURIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ENTEROKINASE DEFICIENCY, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 10, CEREBROOCULOFACIOSKELETAL SYNDROME 3, BARDET-BIEDL SYNDROME 7, EHLERS-DANLOS SYNDROME, TYPE VI, LEPRECHAUNISM, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, CONGENITAL SHORT BOWEL SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TRANSCOBALAMIN II DEFICIENCY, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, HYDROLETHALUS SYNDROME, {METABOLIC SYNDROME, PROTECTION AGAINST}, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, YUNIS-VARON SYNDROME, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MARTSOLF SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, SCLEROSTEOSIS 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ATELOSTEOGENESIS, TYPE I, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, ?DIAMOND-BLACKFAN ANEMIA 11, MARSHALL SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SHWACHMAN-DIAMOND SYNDROME, DIAMOND-BLACKFAN ANEMIA 10, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TYROSINEMIA, TYPE I, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, BRACHYOLMIA TYPE 3, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MICROPHTHALMIA WITH LIMB ANOMALIES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, SERKAL SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, AL-RAQAD SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MENTAL RETARDATION, X-LINKED 45, COLE-CARPENTER SYNDROME 1, MEIER-GORLIN SYNDROME 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, NIJMEGEN BREAKAGE SYNDROME, COHEN SYNDROME, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, SCLEROSTEOSIS 1, PRADER-WILLI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, ?CRANIOECTODERMAL DYSPLASIA 4, COFFIN-SIRIS SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, NETHERTON SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, SELECTIVE T-CELL DEFECT, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?JOUBERT SYNDROME 26, VICI SYNDROME, COFFIN-SIRIS SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ATELEIOTIC DWARFISM, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, NIEMANN-PICK DISEASE, TYPE B, SJOGREN-LARSSON SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, RITSCHER-SCHINZEL SYNDROME 1, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PROUD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, OPITZ-KAVEGGIA SYNDROME, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PELIZAEUS-MERZBACHER DISEASE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEPHRONOPHTHISIS 15, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, DE SANCTIS-CACCHIONE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PANCREATIC AGENESIS 2, ?SECKEL SYNDROME 8, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, WATSON SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ACROMICRIC DYSPLASIA, BRITTLE CORNEA SYNDROME 1, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATEMIC RICKETS, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, MENTAL RETARDATION, X-LINKED 94, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, HYPOMAGNESEMIA 3, RENAL, AICARDI-GOUTIERES SYNDROME 4, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, OHDO SYNDROME, X-LINKED, FANCONI ANEMIA, COMPLEMENTATION GROUP T, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PANCREATIC LIPASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, KEPPEN-LUBINSKY SYNDROME, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, BRACHYDACTYLY, TYPE D, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HYPERLIPOPROTEINEMIA, TYPE 1D, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, RETINITIS PIGMENTOSA 71, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, STAR SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, MENTAL RETARDATION, X-LINKED 72, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, HETEROTAXY, VISCERAL, 5, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, CZECH DYSPLASIA, ALSTROM SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CEREBROOCULOFACIOSKELETAL SYNDROME 4, LYSINURIC PROTEIN INTOLERANCE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ADENYLOSUCCINASE DEFICIENCY, 3-M SYNDROME 1, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOECTODERMAL DYSPLASIA 2, INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, SMITH-MCCORT DYSPLASIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LYMPHEDEMA, HEREDITARY, III, MILLER SYNDROME, BARDET-BIEDL SYNDROME 3, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, CYCLIC VOMITING SYNDROME; CVS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, ARGININOSUCCINIC ACIDURIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, BRACHYDACTYLY, TYPE A1, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, MENTAL RETARDATION, X-LINKED 99, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, PETERS-PLUS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, NEU-LAXOVA SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, DIAPHANOSPONDYLODYSOSTOSIS, BARDET-BIEDL SYNDROME 16, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, NOONAN SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PEROXISOME BIOGENESIS DISORDER 3B, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BARDET-BIEDL SYNDROME 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BARDET-BIEDL SYNDROME 4, COENZYME Q10 DEFICIENCY, PRIMARY, 7, TATTON-BROWN-RAHMAN SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?SPASTIC PARAPLEGIA 63, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, MEIER-GORLIN SYNDROME 3, ROTHMUND-THOMSON SYNDROME, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BRUCK SYNDROME 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JOUBERT SYNDROME 2, ALKAPTONURIA, GLUCOSE/GALACTOSE MALABSORPTION, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, ARTHROGRYPOSIS, DISTAL, TYPE 2A, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE XI, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), KEUTEL SYNDROME, ACHONDROGENESIS, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, SOTOS SYNDROME 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, SMITH-LEMLI-OPITZ SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, TENORIO SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, ARTHROGRYPOSIS, DISTAL, TYPE 5D, ETHYLMALONIC ENCEPHALOPATHY, PANCREATIC AGENESIS 1, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, WIEACKER-WOLFF SYNDROME, PANHYPOPITUITARISM, X-LINKED, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, HOLOPROSENCEPHALY-9, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, ?LAURENCE-MOON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, CORNELIA DE LANGE SYNDROME 4, OSTEOGENESIS IMPERFECTA, TYPE II, ?BARDET-BIEDL SYNDROME 18, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ?DYSTONIA, JUVENILE-ONSET, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ?MYOSCLEROSIS, CONGENITAL, ELLIS-VAN CREVELD SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, CRANIOECTODERMAL DYSPLASIA 3, OSTEOGENESIS IMPERFECTA, TYPE XIII, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JOUBERT SYNDROME 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, BARDET-BIEDL SYNDROME 13, SECKEL SYNDROME 9, ?MICROPHTHALMIA, SYNDROMIC 11, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 4, POIKILODERMA WITH NEUTROPENIA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MORBID OBESITY AND SPERMATOGENIC FAILURE, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, XIA-GIBBS SYNDROME, SCHAAF-YANG SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, COLD-INDUCED SWEATING SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, JOUBERT SYNDROME 14, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MALONYL-COA DECARBOXYLASE DEFICIENCY, RENPENNING SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, MUCOPOLYSACCHARIDOSIS II, SPONDYLOCOSTAL DYSOSTOSIS 5, KENNY-CAFFEY SYNDROME, TYPE 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, WILSON-TURNER SYNDROME, THYROID DYSHORMONOGENESIS 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, ANDROGEN INSENSITIVITY, NEU-LAXOVA SYNDROME 1, WOLCOTT-RALLISON SYNDROME, CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA, FOLATE MALABSORPTION, HEREDITARY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VIIC, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), LEUKODYSTROPHY, HYPOMYELINATING, 12, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, COENZYME Q10 DEFICIENCY, PRIMARY, 2, GLUCOCORTICOID DEFICIENCY 4, GM1-GANGLIOSIDOSIS, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, LERI-WEILL DYSCHONDROSTEOSIS, JOUBERT SYNDROME 18, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, NOONAN SYNDROME 8, BARDET-BIEDL SYNDROME 9, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, HAWKINSINURIA, IMMUNODEFICIENCY 9, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH/S, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ASPARAGINE SYNTHETASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, DENT DISEASE 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, SMITH-KINGSMORE SYNDROME

Associated genes: CA2, RPL5, DNA2, TMEM216, FGFR1, SLC5A5, TCTN3, PRSS1, PSPH, GPT2, ACADS, DNM2, CC2D2A, TBX22, GNAS, WNT5A, CIITA, GLI3, COL3A1, RNASEH2A, SOS2, GUSB, LYRM7, RBBP8, TP63, TRMT10A, ETHE1, BBS5, ALG3, PCYT1A, BCOR, CDC6, MC2R, CHD8, WDR73, GLYCTK, GALE, SLC17A5, AKT2, PIEZO2, NOG, MT-TQ, KIF7, PTRH2, RAD51C, FH, MT-TE, H6PD, PNPT1, AGK, HPGD, G6PC, TTC8, ASPM, AHDC1, POR, SLC4A4, PHF6, ACACA, LARGE1, CREBBP, EFNB1, HGD, MYO18B, KMT2C, TRMT5, EPCAM, DYNC2H1, FAR1, EVC, PHKB, VLDLR, ATRX, XRCC4, SOX2, KDM6A, CEP120, NDUFAF3, NALCN, PHKA2, SPINK5, COL6A2, LONP1, SLC39A8, CD79A, DNMT3A, THRA, SFTPC, CBS, GLI2, BUB1B, ABAT, ASAH1, NOD2, BLK, CASK, MGAT2, AGRP, PGM1, GTF2H5, ALAD, ORC6, ASS1, DSP, AMACR, SMARCE1, MTM1, KCNJ1, TALDO1, NSUN2, COMP, TPM2, GPC6, BCS1L, SPARC, AAAS, ELOVL4, SGSH, BMP1, MKKS, UBR1, ACAN, ROR2, DDX3X, NKX2-5, ABCD4, NDUFA1, KRAS, ARL6, TNNT2, GPD1, CYP21A2, RAG2, ANKRD11, ADRB3, TRAPPC9, KMT2A, FAH, NDUFA10, MPDU1, ALDH3A2, VPS53, MT-CO1, GATA1, MAN1B1, BANF1, TCIRG1, FANCE, AGL, TRAF3IP1, LAMTOR2, TAT, HNF1B, LTBP3, NSDHL, SETD2, SMAD4, CTSK, CHST14, TMCO1, TAF1, CEP290, NDUFAF2, RAB3GAP1, CRTAP, GPIHBP1, FAT4, LEP, LAMA3, PNPLA6, NDUFS7, CHRNA1, NARS2, TTC7A, NUP62, PPP2R1A, HES7, GCDH, NKX3-2, RFXAP, MMACHC, RIPK4, SLC9A1, INPPL1, AIP, PPIB, ICR1, ECHS1, LRPPRC, STAMBP, DIAPH1, MLYCD, NPHS1, ARID1B, COX15, EZH2, TWIST1, RPGRIP1L, PCCA, CTNS, MALT1, CD96, MT-TH, ZBTB16, HSPA9, ORC1, GNE, MBD5, BMPR1B, GH1, MUSK, CHMP1A, KIAA2022, SDHA, NPR2, CTC1, COQ4, RBCK1, ADK, BBS9, POLA1, CHST3, PLEC, CUL4B, LAMC2, SLC2A1, IRF8, DHCR24, TRIP11, MASP1, BBS7, PYGL, SLC46A1, LIPA, SEPN1, UNC80, AP4S1, UBE2A, MYH3, SEC23A, NONO, PTPN11, PEX12, NDUFA9, MAPRE2, RFX6, IFT27, PHKG2, HADHB, STAT3, MT-CO2, CHRNB1, PDSS1, RBMX, COL5A2, NDUFS4, ENPP1, VPS45, SPRTN, DST, PDGFRB, ALDOA, MCM4, PTPRC, DPM1, ESCO2, DMXL2, NEU1, ZMPSTE24, SNRPN, RAB40AL, HLA-DQB1, NLRP5, SNRPB, SLC6A8, B4GALT7, RNF113A, ADAMTS17, CTCF, SOX11, AKR1D1, GHRL, FANCL, EGFR, CDSN, SARS2, UCP1, COX7B, RDH11, PNPLA2, ARID1A, HPD, TTC21B, ARSB, PDE4D, MT-TS2, MMAA, SURF1, CCBE1, PRF1, ARMC5, FANCM, GJB6, AUTS2, TSPYL1, TRAIP, ORC4, TECPR2, SBDS, MKS1, HNMT, VPS11, ACTB, STIM1, TERT, MOCS2, RPS7, COL1A2, DGUOK, JPH3, SNX10, ALPL, B3GLCT, AP4B1, TMEM237, MRAP2, PDE11A, PEX13, PNPO, SMC1A, TSR2, RNU4ATAC, MCCC2, GJA1, IDUA, ADGRG6, SMOC1, ZBTB20, TYMP, BBS1, ARSE, IKBKAP, PTRF, USB1, PROK2, MT-ATP6, PGAP1, MT-CO3, NBN, PGAP3, GALNS, CYP11B1, COX6B1, JAG1, LIAS, RRM2B, NAGS, IGF1, PET100, HSD11B1, PPARGC1B, AARS2, IL2RG, CUL7, SF3B4, CYB5R3, FIG4, SHOC2, PCCB, RPS28, TNNT3, NDE1, ALDOB, MAP2K2, CLCNKA, CYP7B1, GUCY2D, SP7, TRPV4, SLC34A3, FAM58A, PKLR, AGPAT2, DYRK1B, ERCC3, WDR19, TTC37, MCEE, ADAMTSL2, NDUFA12, CRIPT, P3H1, UMPS, SLC29A3, SLC39A4, AFF4, POC1A, EHHADH, EXOSC8, KIF5C, ESR1, GK, EARS2, ADAMTS10, RBM10, MRPS16, VPS33B, LRP5, CCDC22, NDUFAF5, GPX4, RMRP, FGFR3, HPRT1, STAC3, SLC6A19, AP4E1, CARTPT, WDPCP, NLRC4, FANCA, RAB18, STRADA, EPG5, DVL3, UPF3B, FANCD2, BRAF, UQCC3, KAT6A, NDUFS3, LAMB3, MC4R, SLC26A3, SUGCT, MGME1, BBS12, CCDC170, DPH1, GNPTG, UBE2T, SLC2A2, MMAB, MT-TL1, ALG1, TMEM70, KRT5, TRIM2, SMAD9, GRM1, GHR, CYP27B1, MYT1L, ANKLE2, RIN2, TAZ, AASS, SNCA, SH3PXD2B, ANKH, KCNJ5, POMC, TGDS, GDF5, HRAS, HSD11B2, NDN, BBS10, CCDC8, GBE1, PLP1, PCSK1, FOXP1, DVL1, MUT, COQ9, FAM111B, CDK5RAP2, COG4, LRP2, IKBKB, CASP8, LHX4, UROS, BSND, CCDC28B, PSMB8, DGAT1, FOXRED1, NF1, ARNT2, FARS2, CDKL5, KCNH1, MAF, CEP19, ANTXR1, KANSL1, TUBB4A, SLC39A13, MT-ND3, CENPJ, POLR3B, NDUFV1, OTC, VDR, SHOXY, NODAL, ZNF469, SLC25A15, KRT14, DYRK1A, MTFMT, SHOX, PPP2R5D, MIR17HG, ALB, ZC4H2, GNS, AQP2, RFT1, XYLT1, MRPS22, HYLS1, GATA6, KMT2D, CFTR, MTR, EMG1, IDS, PCLO, STAT1, IFT43, PEX7, TBCE, RFX5, RECQL4, IGF1R, NOS3, COL6A3, MED12, NDUFB9, SERAC1, NIPBL, TINF2, WDR60, PIK3R1, OFD1, COLEC11, PCNA, ITPA, PTF1A, AGA, SDHAF1, FLNB, PMPCA, PEX16, MED17, TMEM67, SLC10A2, ARL13B, APOPT1, MGP, ALDH18A1, HSPG2, EXT2, PYCR1, NDUFS2, C10orf2, VPS13B, SATB2, MTOR, PDX1, PEX5, DCHS1, PHEX, CD3D, KCNJ10, ADRB2, STT3B, SDHD, ADSL, RAD21, MT-ND6, IFIH1, BRCA2, IGBP1, IKBKG, CTSA, CEP164, DHFR, EFTUD2, CYP11B2, RPS26, ATP6V1B2, AGT, PMM2, GCK, KCNJ6, TAF6, TRAPPC2, KDM1A, MAGEL2, WDR35, GALT, NPHP4, ERCC8, HCRT, EIF4A3, SOS1, NADK2, NEB, IGHMBP2, COQ7, KIAA0556, UCP3, NPHP1, BBIP1, DPYS, IGHM, IL21R, CDKN1C, PDE6D, SIM1, CHCHD10, MMP1, COL10A1, BBS2, COX8A, PIK3CA, MSMO1, LTBP4, VIPAS39, ST3GAL5, BMPER, NDST1, MBTPS2, SIL1, MTO1, TNFRSF11B, ECEL1, NAA10, KIAA1033, GRID2, CLMP, COL2A1, BCAP31, MARS2, SEC24D, NUBPL, PCNT, ACTA1, VRK1, FKBP10, MOG, TBX15, SMARCA4, UROC1, CBL, SCNN1G, NDUFAF6, ATP8B1, LZTR1, ABCB11, CLCN5, AR, GPC3, NDUFAF4, IGF2, SEMA3E, CLUAP1, PARN, DCLRE1C, NR1I3, BLM, FANCC, IL21, ERCC6, SHANK3, SOX3, MT-TS1, CRLF1, MT-TK, ASXL1, COL9A2, NNT, GFM1, HADHA, COL7A1, CEP152, CTDP1, PLOD1, PLOD3, ORAI1, HGSNAT, LMNA, MMP13, ACO2, POGZ, ACP5, PNPLA8, KIF2A, SDC3, IMPAD1, MCPH1, GLIS3, SUCLA2, SGO1, ERCC5, DHODH, DPYD, GTPBP3, ADAMTS2, TSHB, MEGF8, GSC, ZNF335, SLC25A13, CLDN16, RPS6KA3, DKC1, DDR2, IFT140, GNPTAB, INS, DNM1L, MOCS1, PIK3R2, BSCL2, COL11A2, DLL3, FCGR2A, DIS3L2, YARS2, DDHD2, KIF14, PEX1, C15orf41, PTDSS1, EXT1, SLC22A5, FRMD4A, G6PC3, SDCCAG8, LMX1B, HLA-DRB1, KDM5C, TBC1D20, NAT8L, PEX6, GNA11, BBS4, HNF4A, RAPSN, UQCC2, SMARCAL1, LTBP2, STEAP3, BRCA1, PTHLH, PHC1, TTI2, ITPR2, DYM, SMS, IARS2, KLF1, AIMP1, BMPR1A, FBN1, PEX19, PHGDH, USP9X, DCTN1, PTS, IHH, RPS10, POLD1, ELAC2, TMEM165, ACD, MCCC1, TSHR, RPS19, H19, PROP1, PTEN, ALMS1, PIGA, MTTP, POLG2, LZTFL1, AMER1, EFEMP2, CHRND, EHMT1, GHSR, HIKESHI, LRP4, SSR4, THOC2, JAGN1, SUCLG1, RTTN, FBXL4, PLAGL1, HDAC8, MYH7, AGPS, DHCR7, ADAT3, COX14, MT-ND4, PUF60, ABCA3, B3GAT3, CENPE, JAK3, HADH, ATP7A, COL11A1, TGFB1, ERCC4, TMEM173, NEK1, TBX4, SOST, POLE, LRBA, GATM, TBX1, C12orf65, ZBTB24, GBA, CA12, ABCC9, PIP5K1C, DOK7, CACNA1S, RPL26, PLOD2, TRH, PIGG, DCPS, IYD, RIT1, PTH1R, PAM16, EDNRB, FASTKD2, POLG, NDUFS6, EIF2AK3, SFTPB, HMGB3, MYH8, ADNP, OCLN, ZAP70, NDUFB11, KCNJ18, MPLKIP, SLC12A1, TRIM37, TUFM, AMPD2, PNLIP, SRCAP, DSG1, FUCA1, MPV17, CARS2, MPC1, POLR1A, IGSF1, FAM20C, COL1A1, DNAJC19, ST14, CHRNG, MAP3K1, RAG1, NDUFA11, TAPT1, PIGT, ERCC1, CDT1, NBAS, RTEL1, EBP, SETBP1, TBX3, P4HB, KIF22, PPARG, SCO1, COL5A1, FAM111A, OTX2, PRKAR1A, COG6, KISS1R, SMPD1, BTK, COL27A1, OCRL, MAN2B1, CLPP, PRPS1, NDUFB3, RAB3GAP2, IBA57, AARS, CLASP1, KCNQ1OT1, SEPT9, NDUFS8, ZFP57, COX20, SERPINH1, PIGL, SIX3, ERCC2, TGFBR2, RNF168, FGD1, XYLT2, WFS1, NEUROG3, AUH, POU1F1, FLVCR2, HLA-DQA1, COL9A3, DNMT3B, ATP6V0A2, GRIA3, WNT4, CYP2R1, VAX1, TMPRSS15, WNT7A, PIGY, ASNS, STT3A, PIGO, FBLN5, RBM8A, FGFR2, MC3R, NOTCH2, WRN, SCNN1B, IFT172, GAS1, IL6, LINS1, COL6A1, TPM3, SLC34A1, EPHX1, MATN3, EVC2, CEP63, LHX3, ARFGEF2, LIFR, CANT1, SPG20, MEGF10, DDX11, RSPRY1, TNNI2, GLA, NR0B1, MT-TD, TSFM, PDE3A, PPP1R15B, ZIC3, WNT1, TGFBR1, SLC35C1, HDAC6, SLC4A1, AP1S1, CLP1, NDUFA2, NR3C2, CLPB, SLC19A2, NOTCH3, KIF1A, SLC7A7, ZEB2, GNPAT, HCFC1, TRIM32, CYP24A1, CNTN1, RFXANK, TUB, NFU1, SPATA5, ABCC8, ARG1, PAX8, TCN2, LARS, SLX4, KCNJ11, RAB39B, PQBP1, IL7R, NIN, SMARCA2, FTCD, INPP5E, WDR81, SLC9A6, SPR, SFXN4, NFIX, TBX6, MECP2, MVK, ATPAF2, TGFB3, CHD7, CASR, PAPSS2, PNP, RAB33B, MYO5B, KIF1B, NDUFAF1, NRAS, PYCR2, IFITM5, FOXG1, FBN2, SLC26A2, HYAL1, PRKDC, NDUFS1, TRNT1, MRPL3, PLK4, DDX58, RPS17, C5orf42, DOLK, PIEZO1, SLC25A4, ZBTB18, FGF23, AVPR2, STRA6, AKT1, PSAT1, SLC37A4, RNF125, PIGN, B3GALT6, WDR34, TFAP2A, SOX9, CLCNKB, ADA, SNAP29, DDOST, TRAC, LMBRD1, SKIV2L, LYRM4, RUNX2, SUMF1, ITCH, LCK, HESX1, NME1, FLNA, PUS1, MYH11, POLR3A, MCM9, RAB23, TUBGCP6, HCCS, MPI, PEX2, HSD17B4, ASL, PRNP, PDHA1, TRAPPC11, RPL35A, ATM, AHCY, GLB1, SPG11, BRF1, GRHL2, QDPR, NSD1, NLRP3, PRKACA, DLX5, INSR, GALC, TRPS1, NOTCH1, KIAA0196, NDUFV2, CEP57, SLC5A1, CPS1, ZNF592, CD3G, UBE3A, MARS, RPL11, GCH1, COX4I2, SCNN1A, L1CAM, MT-ND5, TACO1, ATP5A1, RET, ARX, KCNJ2, SMARCB1, HACE1, HOXD13, EXOSC3, RARS2, DNAJC3, SAR1B, NR0B2, MT-ND1, ATR, ZNF81, NHP2, CKAP2L, SLC35D1, SHH, HSD3B7, LARP7, MTRR, COX10, PORCN, RYR1, FTO