GROWTH ABNORMALITY, HP:0001507

Associated diseases: VERHEIJ SYNDROME, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?NARCOLEPSY 7, KOWARSKI SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARTHROGRYPOSIS, DISTAL, TYPE 5, 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, NOONAN SYNDROME 5, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {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, MASS SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, MOLYBDENUM COFACTOR DEFICIENCY A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, BRUCK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, ?UROCANASE DEFICIENCY, SALLA DISEASE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), EXOSTOSES, MULTIPLE, TYPE 1, ?STEEL SYNDROME, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, CATSHL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUIJS-AALFS SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME 4, 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, ARTHROGRYPOSIS, DISTAL, TYPE 3, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, CORNELIA DE LANGE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HELSMOORTEL-VAN DER AA SYNDROME, 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, ACHONDROPLASIA, GLUTARIC ACIDURIA III, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LANGER MESOMELIC DYSPLASIA, HYPERCHLORHIDROSIS, ISOLATED, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, SECKEL SYNDROME 7, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ALKAPTONURIA, ?MARDEN-WALKER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, FEINGOLD SYNDROME 2, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, SINGLETON-MERTEN SYNDROME 1, JOUBERT SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, KBG SYNDROME, NIJMEGEN BREAKAGE SYNDROME, MARTSOLF SYNDROME, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MUCOPOLYSACCHARIDOSIS TYPE IIID, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, SELECTIVE T-CELL DEFECT, HARTNUP DISORDER, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, ACETYL-COA CARBOXYLASE DEFICIENCY, CARPENTER SYNDROME, CHIME SYNDROME, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, 3-M SYNDROME 2, KEPPEN-LUBINSKY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, IMMUNODEFICIENCY 12, PARASTREMMATIC DWARFISM, CORTISONE REDUCTASE DEFICIENCY 1, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, PELGER-HUET ANOMALY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?RETINAL DYSTROPHY AND OBESITY, KLEEFSTRA SYNDROME, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, GRACILE BONE DYSPLASIA, NOONAN SYNDROME 4, ?CRANIOECTODERMAL DYSPLASIA 4, 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, BARDET-BIEDL SYNDROME 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, BRACHYDACTYLY, TYPE E2, SMITH-MCCORT DYSPLASIA 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), WARBURG MICRO SYNDROME 4, SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MECKEL SYNDROME 12, ?FANCONI RENOTUBULAR SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, OLIVER-MCFARLANE SYNDROME, 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, BRACHYDACTYLY, TYPE A2, ?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, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, NICOLAIDES-BARAITSER SYNDROME, 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, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MUCOPOLYSACCHARIDOSIS, MPS-III-A, OGDEN SYNDROME, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, COMBINED MALONIC AND METHYLMALONIC ACIDURIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?SECKEL SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEBER CONGENITAL AMAUROSIS 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, TYROSINEMIA, TYPE I, MUCOLIPIDOSIS III ALPHA/BETA, NAIL-PATELLA SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MENKES DISEASE, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, GABA-TRANSAMINASE DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, SMITH-MAGENIS SYNDROME, 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, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 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, ?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, OSTEOGENESIS IMPERFECTA, TYPE XVII, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, THYROID DYSHORMONOGENESIS 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CARTILAGE-HAIR HYPOPLASIA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, OROFACIODIGITAL SYNDROME VI, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, ARTS SYNDROME, DENT DISEASE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, XERODERMA PIGMENTOSUM, GROUP B, ABCD SYNDROME, WEILL-MARCHESANI-LIKE SYNDROME, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, CILIARY DYSKINESIA, PRIMARY, 12, WEILL-MARCHESANI SYNDROME 2, DOMINANT, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 1, JUVENILE, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, GLYCOGEN STORAGE DISEASE VI, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, WEISSENBACHER-ZWEYMULLER SYNDROME, MEDNIK SYNDROME, ?SECKEL SYNDROME 6, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, FOCAL DERMAL HYPOPLASIA, 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, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BORJESON-FORSSMAN-LEHMANN SYNDROME, PANHYPOPITUITARISM, X-LINKED, MITCHELL-RILEY SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MEIER-GORLIN SYNDROME 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, POLYMORPHOUS CORNEAL DYSTROPHY, LARON DWARFISM, ANAUXETIC DYSPLASIA, FUMARASE DEFICIENCY, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, GALLOWAY-MOWAT SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, KABUKI SYNDROME 2, PROPIONICACIDEMIA, PSEUDOHYPOPARATHYROIDISM IC, NEUROFIBROMATOSIS, TYPE 1, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, EHLERS-DANLOS SYNDROME, TYPE VI, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, SESAME SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BRACHYDACTYLY, TYPE C, 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, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, RAINE SYNDROME, OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, BILE ACID MALABSORPTION, PRIMARY, OMODYSPLASIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, C SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ?OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME 3, ?ABRUZZO-ERICKSON SYNDROME, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, SHWACHMAN-DIAMOND SYNDROME, BRACHYDACTYLY, TYPE A1, C, SOTOS SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, IMMUNODEFICIENCY 19, 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, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ARTHROGRYPOSIS, DISTAL, TYPE 8, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ?LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, LEOPARD SYNDROME 1, 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, GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 2, MENTAL RETARDATION, X-LINKED 98, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SHORT STATURE, IDIOPATHIC FAMILIAL, PALLISTER-HALL SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, PEROXISOME BIOGENESIS DISORDER 3B, DYGGVE-MELCHIOR-CLAUSEN DISEASE, DIGEORGE SYNDROME, FRUCTOSE INTOLERANCE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNELIA DE LANGE SYNDROME 4, NEPHROTIC SYNDROME, TYPE 1, GALACTOSIALIDOSIS, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MECKEL SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE IB, LEOPARD SYNDROME 2, NOONAN SYNDROME 10, GM1-GANGLIOSIDOSIS, TYPE I, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OBESITY, MORBID, DUE TO LEPTIN RECEPTOR DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FILIPPI SYNDROME, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), SPONDYLOPERIPHERAL DYSPLASIA, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ?XFE PROGEROID SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MUCOPOLYSACCHARIDOSIS TYPE IX, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MUSCULAR DYSTROPHY, CONGENITAL, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ALAZAMI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, ANDERSEN 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, HYPOCHONDROPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, APPARENT MINERALOCORTICOID EXCESS, CORNELIA DE LANGE SYNDROME 2, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, CHOPS SYNDROME, LOEYS-DIETZ SYNDROME 5, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, TRYPSINOGEN DEFICIENCY, VELOCARDIOFACIAL SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, 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, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, 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}, ESCOBAR SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GELEOPHYSIC DYSPLASIA 2, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, BARDET-BIEDL SYNDROME 6, HUNTINGTON DISEASE-LIKE 2, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), CONGENITAL SHORT BOWEL SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, TYROSINEMIA, TYPE II, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, BOWEN-CONRADI SYNDROME, SENIOR-LOKEN SYNDROME 9, FUHRMANN SYNDROME, MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, 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, GAUCHER DISEASE, TYPE III, GRACILE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, MICROVILLUS INCLUSION DISEASE, {?OBESITY, SUSCEPTIBILITY TO, BMIQ18}, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, OMENN SYNDROME, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, 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, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PSEUDOACHONDROPLASIA, COUSIN SYNDROME, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, GLASS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, STAR SYNDROME, 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, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP G, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP E, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, STICKLER SYNDROME, TYPE IV, ?LICHTENSTEIN-KNORR SYNDROME, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, NOONAN SYNDROME 6, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, SILVER-RUSSELL SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, ?BARDET-BIEDL SYNDROME 19, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, AMYOTROPHY, HEREDITARY NEURALGIC, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, ?MENTAL RETARDATION, X-LINKED 91, LOEYS-DIETZ SYNDROME 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, 3MC SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP J, FUCOSIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP I, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, METHYLMALONYL-COA EPIMERASE DEFICIENCY, ACID-LABILE SUBUNIT, DEFICIENCY OF, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, 46XY SEX REVERSAL 1, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, BLOOM SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ENTEROKINASE DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, BOOMERANG DYSPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, GREENBERG SKELETAL DYSPLASIA, SECKEL SYNDROME 1, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TRANSCOBALAMIN II DEFICIENCY, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, BOHRING-OPITZ SYNDROME, SPONDYLOOCULAR SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CRANIOECTODERMAL DYSPLASIA 2, YUNIS-VARON SYNDROME, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, HEME OXYGENASE-1 DEFICIENCY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ATELOSTEOGENESIS, TYPE I, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, MARSHALL SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GERODERMA OSTEODYSPLASTICUM, DIAMOND-BLACKFAN ANEMIA 10, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, 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, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MICROPHTHALMIA WITH LIMB ANOMALIES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, OSTEOGENESIS IMPERFECTA, TYPE I, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, CRANIOECTODERMAL DYSPLASIA 1, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COLE-CARPENTER SYNDROME 1, WRINKLY SKIN SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, COHEN SYNDROME, OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, SCLEROSTEOSIS 1, FANCONI ANEMIA, COMPLEMENTATION GROUP N, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, OSTEOGENESIS IMPERFECTA, TYPE IX, GLYCOGEN STORAGE DISEASE IXC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, NETHERTON SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ?LAURENCE-MOON SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, 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 14, VICI SYNDROME, NIEMANN-PICK DISEASE, TYPE A, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ATELEIOTIC DWARFISM, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, 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, HYPERCHOLANEMIA, FAMILIAL, NOONAN SYNDROME 3, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ?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, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MEIER-GORLIN SYNDROME 4, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PELIZAEUS-MERZBACHER DISEASE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), AYME-GRIPP SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, 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, HYPERCALCEMIA, INFANTILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PANCREATIC AGENESIS 2, ?SECKEL SYNDROME 8, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, SMED STRUDWICK TYPE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, WATSON SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), PERIVENTRICULAR HETEROTOPIA 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, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATEMIC RICKETS, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, 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, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 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, LEUKODYSTROPHY, HYPOMYELINATING, 6, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HYPERLIPOPROTEINEMIA, TYPE 1D, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, RETINITIS PIGMENTOSA 71, AROMATASE EXCESS SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPOPHOSPHATASIA, INFANTILE, BRANCHIOOCULOFACIAL SYNDROME, HETEROTAXY, VISCERAL, 5, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, CZECH DYSPLASIA, ALSTROM SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), 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, COACH SYNDROME, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CEREBROCOSTOMANDIBULAR SYNDROME, PRIMROSE SYNDROME, ROBERTS SYNDROME, INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, CARDIOFACIOCUTANEOUS SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, SMITH-MCCORT DYSPLASIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, CORNELIA DE LANGE SYNDROME 3, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, MILLER SYNDROME, BARDET-BIEDL SYNDROME 3, FARBER LIPOGRANULOMATOSIS, CYCLIC VOMITING SYNDROME; CVS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, ARGININOSUCCINIC ACIDURIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, BRACHYDACTYLY, TYPE A1, DIABETES INSIPIDUS, NEPHROGENIC, 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, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP B, BARDET-BIEDL SYNDROME 16, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, SMITH-LEMLI-OPITZ SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BARDET-BIEDL SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, NATIVE AMERICAN MYOPATHY, BARDET-BIEDL SYNDROME 4, COENZYME Q10 DEFICIENCY, PRIMARY, 7, TATTON-BROWN-RAHMAN SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DESMOSTEROLOSIS, DU PAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?SPASTIC PARAPLEGIA 63, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, ROIFMAN 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, PITUITARY DEPENDENT HYPERCORTISOLISM, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, SECKEL SYNDROME 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, 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, CILIARY DYSKINESIA, PRIMARY, 11, 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, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, MUCOPOLYSACCHARIDOSIS II, GLUCOSE/GALACTOSE MALABSORPTION, NEU-LAXOVA SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, RAYMOND TYPE, 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, BRACHYDACTYLY, TYPE E, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, BAINBRIDGE-ROPERS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SOTOS SYNDROME 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, ARTHROGRYPOSIS, DISTAL, TYPE 5D, ETHYLMALONIC ENCEPHALOPATHY, PANCREATIC AGENESIS 1, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, WIEACKER-WOLFF SYNDROME, CITRULLINEMIA, LOWE SYNDROME, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, ?BARDET-BIEDL SYNDROME 11, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, ?BARDET-BIEDL SYNDROME 18, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, ?DYSTONIA, JUVENILE-ONSET, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, 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, COFFIN-SIRIS SYNDROME 1, PHELAN-MCDERMID SYNDROME, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, RESTRICTIVE DERMOPATHY, LETHAL, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, 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, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, OSTEOGENESIS IMPERFECTA, TYPE IV, 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, LATHOSTEROLOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, BARDET-BIEDL SYNDROME 13, MICROPHTHALMIA, SYNDROMIC 14, SECKEL SYNDROME 9, MENTAL RETARDATION, AUTOSOMAL DOMINANT 33, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 4, POIKILODERMA WITH NEUTROPENIA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, GALACTOSEMIA, 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, ?PRECOCIOUS PUBERTY, CENTRAL, 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, CEREBROOCULOFACIOSKELETAL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MALONYL-COA DECARBOXYLASE DEFICIENCY, RENPENNING SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, 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, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, GELEOPHYSIC DYSPLASIA 1, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, PREMATURE OVARIAN FAILURE 2B, 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, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), 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, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, 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, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, NOONAN SYNDROME 8, BARDET-BIEDL SYNDROME 9, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, 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, {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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, PERRAULT SYNDROME 3, DENT DISEASE 2, ATELOSTEOGENESIS, TYPE III, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

Associated genes: CA2, COL27A1, TMEM216, LTC4S, WDR73, TCTN3, DCHS1, PSPH, BCKDHB, ACADS, DNM2, CC2D2A, NALCN, GNAS, CIITA, GLI3, COL3A1, RNASEH2A, GUSB, RBBP8, TP63, TRMT10A, ETHE1, BBS5, TTC7A, FBXL4, PCYT1A, NSDHL, CLMP, GLYCTK, POLE, TMEM237, SLC17A5, LHX3, PIEZO2, TBCE, NOG, KIF7, PTRH2, RAD51C, SLC6A8, MT-TE, H6PD, CDC6, PLAGL1, AGK, DOK7, SHROOM4, G6PC, PNPO, INPP5E, ARSE, KANSL1, POR, PEX2, TGFBR2, ANKLE2, GPT2, CYP7B1, HGD, CANT1, WWOX, TRMT5, EPCAM, DYNC2H1, PTEN, LARGE1, EVC, PHKB, VLDLR, ATRX, XRCC4, SOX2, KDM6A, BCOR, NDUFAF3, TBX22, PHKA2, POMC, COL6A2, LONP1, SLC39A8, CD79A, THRA, PGM1, ASNS, CBS, GLI2, BUB1B, ABAT, ASAH1, KIAA2022, BLK, CASK, MGAT2, AGRP, FGF17, FANCB, ALAD, ORC6, NR0B1, DSP, AMACR, SMARCE1, AHDC1, KCNJ1, MT-TD, COMP, FBN2, GPC6, EFTUD2, SPARC, AAAS, SLC6A19, SGSH, IL6, MKKS, STEAP3, DDX3X, ABCD4, NDUFA1, KRAS, TNNT2, GPD1, CYP21A2, RAG2, GNAS-AS1, LTBP3, ANKRD11, ADRB3, TRAPPC9, KMT2A, CYB5R3, NDUFA10, TYMP, SMC3, ARG1, SEPT9, MT-CO1, GATA1, MAN1B1, BANF1, RMRP, FANCE, ZC4H2, AGL, DDR2, PRPS1, TAT, SMAD4, BCS1L, CYP11B1, DVL3, SCNN1B, TMCO1, SLC4A1, CEP290, NDUFAF2, TPM2, CRTAP, PDGFRB, IARS2, HPRT1, CTDP1, PNPLA6, NDUFS7, SOX9, NARS2, ALG3, NUP62, HES7, AMER1, CCDC28B, NKX3-2, NODAL, MMACHC, RIPK4, TRIP11, INPPL1, AIP, PPIB, ICR1, CTSK, LRPPRC, RAD50, SLC5A1, BRIP1, RAB18, SOX3, CHRNA1, SH3PXD2B, LARP7, BBS1, TWIST1, RECQL4, CTNS, PEX13, AARS, MT-TH, ARL6, OBSL1, ORC1, EFNB1, FAR1, TSFM, GH1, MUSK, SPINK5, NOD2, NAA10, CTC1, MTM1, RBCK1, ADK, BBS9, POLA1, CHST3, CUL4B, PIGA, SLC2A1, IRF8, FAM20A, SLC9A1, MASP1, BBS7, PYGL, SLC46A1, SLC12A1, SEPN1, NOTCH1, LAMC2, UBE2A, NPHP1, SEC23A, PIGL, PTPN11, PEX12, NDUFA9, MAPRE2, HPD, PHKG2, HADHB, STAT3, MT-CO2, NLRP5, PDSS1, RFXANK, NDUFS4, ENPP1, VPS45, SPRTN, DPYS, ALDOA, MCM4, BRAF, DPM1, COL5A2, ESCO2, DMXL2, NDUFS8, ZMPSTE24, SNRPN, RAB40AL, CLCNKB, SNRPB, FH, P4HB, RNF113A, CTCF, MLYCD, RRM2B, GHRL, FANCL, LIPA, CDSN, SARS2, UCP1, COX7B, DST, RDH11, TERT, GTF2H5, SRY, IFT27, TTC21B, SOS2, PDE4D, MT-TS2, PSAT1, PEX5, HPGD, CCBE1, MMAB, ARMC5, GNPTAB, RPS26, AUTS2, TSPYL1, TRAIP, RNU4ATAC, TECPR2, LZTFL1, SPATA5, ACTB, FANCM, SEMA3E, MOCS2, COL1A2, DGUOK, JPH3, SNX10, B3GLCT, AP4B1, PCCB, MRAP2, B3GALT6, PDE11A, NLRC4, BMP4, ECHS1, PROP1, BMP1, G6PC3, ADGRG6, HMGB3, ZBTB20, LRBA, NPHS1, IFT172, ASPM, ELOVL4, CDK5RAP2, NPR2, PROK2, COX8A, TRNT1, RFT1, MT-CO3, NBN, PCCA, GALNS, EXOSC8, PRF1, MBTPS2, LIAS, USP8, IGF1, PET100, HSD11B1, PPARGC1B, GNAI2, IL2RG, CUL7, NR3C2, SLC4A4, TUB, SHOC2, RPS28, TGFB2, NDE1, ALDOB, MAP2K2, CLCNKA, KIAA1033, NDUFAF1, SP7, TRPV4, SLC34A3, FAM58A, PKLR, DYRK1B, ERCC3, WDR19, TTC37, GNS, NDUFA12, HLA-DRB1, CRIPT, P3H1, SLC26A2, GHR, SLC39A4, AFF4, IHH, POC1A, EHHADH, MYO18B, KIF5C, GK, KMT2C, EARS2, ADAMTS10, RBM10, SC5D, VPS33B, LRP5, NRAS, GPX4, TCIRG1, FGFR3, FAT4, STAC3, GHRHR, AP4E1, CARTPT, SF3B4, WDPCP, MCPH1, FANCA, RSPH4A, FGF23, VIPAS39, EPG5, UPF3B, FANCD2, FANCI, SLC26A3, AKR1D1, NDUFS3, LAMB3, MALT1, LAMA3, SUGCT, ORC4, BBS12, B4GALT7, ALPL, GNPTG, NDUFB3, MT-ATP6, MT-TL1, ALG1, KCNJ5, KRT5, SMAD9, TCN2, KIF2A, CYP27B1, MYT1L, HOXD13, RIN2, TAZ, SERAC1, SOX11, AASS, UBE2T, BMP2, TMEM70, ASXL3, ALDH3A2, GDF5, HRAS, HSD11B2, NDN, DNAJC3, CCDC8, GBE1, PLP1, PCSK1, FGFR1, FOXP1, DVL1, FLVCR2, MUT, ATP6V0A2, HLA-DQB1, COG4, CLDN16, IKBKB, CASP8, MTR, LHX4, NME1, AQP2, BSND, NIPBL, PSMB8, ADNP, FOXRED1, PEX1, SEC24D, VPS13B, FARS2, NAGS, KCNH1, MAF, SFTPC, ANTXR1, ACP5, GALE, TUBB4A, RBM28, MT-ND3, CENPJ, OCLN, IFT140, OTC, VDR, SHOXY, AR, ZNF469, UQCC2, KRT14, TTI2, MTFMT, NDUFS1, PTS, ACTG1, ALB, JAGN1, CYP19A1, B3GAT3, TGFB1, MRPS22, HYLS1, UBR1, KMT2D, IGF1R, EIF2AK3, ALOX12B, PCLO, STAT1, IMPAD1, PEX7, ZBTB24, AHCY, ZBTB16, RFX5, NOS3, COL6A3, EFEMP2, MED12, NDUFB9, NDUFA2, EXOSC3, MT-TQ, STAT5B, TINF2, WDR60, PIK3R1, OFD1, COLEC11, PCNA, LZTR1, MATN3, DUOXA2, PTF1A, AGA, SDHAF1, IFITM5, PDE3A, MED17, TMEM67, SLC10A2, ADAMTS17, SMOC1, MGP, ALDH18A1, HSPG2, FCGR2A, PYCR1, SURF1, C10orf2, SATB2, SKIV2L, PDX1, SLC34A1, SDC3, PHEX, CD3D, KCNJ10, ADRB2, STT3B, TUBGCP6, ADSL, VPS53, RAD21, MT-ND6, IFIH1, FUCA1, IGBP1, IKBKG, CTSA, CEP164, TMPRSS15, CYP11B2, GJB6, ATP6V1B2, AGT, OCRL, PMM2, EIF4A3, KCNJ6, MT-TK, TRAPPC2, NOTCH3, DKC1, SNCA, WDR35, GALT, NPHP4, RBMX, WNT5A, ZEB2, SHANK3, NADK2, IGHMBP2, UCP3, LBR, LIPE, IGHM, IL21R, ARSB, PDE6D, LMBRD1, ARX, SIM1, MMP1, COL10A1, PIK3CA, RFXAP, ST3GAL5, BMPER, JAG1, COX4I2, SBDS, TNFRSF11B, ECEL1, MKS1, MIR17HG, GPIHBP1, COL2A1, BCAP31, MARS2, PRSS1, NUBPL, PCNT, ACTA1, FAM111B, ELAC2, FKBP10, MOG, WDR34, PLEC, UROC1, CBL, SCNN1G, PHGDH, NDUFAF6, EGFR, CDKL5, ABCB11, CLCN5, SLC25A15, ORAI1, IGF2, ANOS1, FIG4, CLUAP1, PARN, XYLT1, DCLRE1C, NR1I3, SFTPB, IL21, ERCC6, AP4S1, SCNN1A, MT-TS1, ATP6V0A4, LMNA, RAI1, NNT, GFM1, HADHA, PLOD1, DCX, PLOD3, NDUFAF4, PNPT1, IGFALS, MMP13, SLC25A13, CHCHD10, PNPLA8, TTC8, TALDO1, GLIS3, SUCLA2, IDS, NDUFS2, COG1, ERCC5, DHODH, DPYD, GTPBP3, DYM, TFAP2A, TSHR, MEGF8, GSC, SMC1A, MAP2K1, PAPSS2, COX14, RPS6KA3, STAMBP, ERCC8, NDUFV1, TBX1, ARID1B, INS, DNM1L, PAM16, BSCL2, COL11A2, COL7A1, FAM20C, SETBP1, DDHD2, PPARG, KIF14, CD96, NBAS, C15orf41, ACSF3, PTDSS1, SDHD, SLC22A5, SMPD1, SGO1, SDCCAG8, LMX1B, ZNF335, KDM5C, ADAMTSL2, CNTN1, MAB21L2, RAB33B, GNA11, BBS4, HNF4A, RAPSN, SMARCAL1, LTBP2, ROR2, BRCA1, PTHLH, PHC1, DYRK1A, ADAMTS2, ACACA, KLF1, AIMP1, BMPR1A, FBN1, ZDHHC9, USP9X, DCTN1, DNA2, DBT, DSG1, ACD, MCCC1, MESP2, TSHB, RPS19, H19, VSX1, ALMS1, POLG2, CFTR, COX10, CHRND, EHMT1, ATPAF2, GHSR, FAH, EMG1, THOC2, ASXL1, SDHA, MCEE, SLC29A3, HDAC8, MYH7, AGPS, DHCR7, ADAT3, BAAT, ATP8B1, MT-ND4, PUF60, ABCA3, PRNP, CENPE, JAK3, HADH, ATP7A, TAF6, COL11A1, KIF22, ERCC4, TMEM173, NEK1, LEP, SOST, MOCS1, SOS1, COX6B1, GATM, CREBBP, PNPLA2, DNMT3A, C12orf65, GBA, CA12, RAB3GAP1, ABCC9, GATA6, TNNT3, RPL26, LAMTOR2, TRH, MECP2, IYD, RIT1, PTH1R, TMEM165, EDNRB, FASTKD2, POLG, RARS2, BRF1, NDUFAF5, CEP19, AGPAT2, ZAP70, NTRK2, SLC19A2, MPLKIP, NDUFB11, DLL3, TRIM37, FLNB, SLC37A4, CFC1, SRCAP, BRCA2, NEU1, CAV1, IFT43, POLR1A, BBIP1, DIS3L2, COL1A1, DNAJC19, CHRNG, GRHL2, RAG1, APOPT1, NDUFA11, PIGT, ERCC1, CDT1, COL9A2, EBP, YARS2, TBX3, COX20, RSPH9, INSR, COL5A1, PALB2, FAM111A, OTX2, TSR2, PRKAR1A, COG6, KISS1R, TRAF3IP1, BTK, OVOL2, COL9A3, MAN2B1, SLC2A2, RAB3GAP2, IBA57, NF1, CLASP1, KCNQ1OT1, RAF1, MPV17, ZFP57, IDUA, TRIM32, SERPINH1, NEUROG3, PTRF, SIX3, BBS2, ERCC2, RNF168, RFX6, PIGO, WFS1, AUH, UMPS, BLM, HLA-DQA1, DNMT3B, THRB, TGDS, GRIA3, FGD1, CYP2R1, GRM1, WNT7A, EXT1, CHD7, STT3A, FBLN5, RBM8A, FGFR2, XYLT2, NKX2-5, NOTCH2, WRN, CDAN1, UQCC3, LINS1, COL6A1, TPM3, SUCLG1, EPHX1, POU1F1, EVC2, CEP63, AKT2, POF1B, MTO1, ARFGEF2, MARS, BCKDHA, SCO1, SPG20, HMOX1, MEGF10, DDX11, AARS2, TNNI2, GLA, ASS1, STX16, NSUN2, TJP2, FANCG, ZIC3, MYH8, TGFBR1, SLC35C1, HDAC6, RTTN, AP1S1, CLP1, GCDH, RTEL1, CLPB, SLC5A5, LEPR, KIF1A, SLC7A7, PLOD2, NDST1, HCFC1, GORAB, CYP24A1, TBC1D20, DHCR24, COL9A1, NFU1, ABCC8, MBD5, PAX8, PGAP3, LARS, SLX4, KCNJ11, PQBP1, GJA1, NIN, SMARCA2, FTCD, MYH3, WDR81, SLC9A6, SPR, SFXN4, MRPS16, NFIX, PEX19, CFAP53, MVK, MC2R, TGFB3, ACAN, CASR, PNP, GCK, MYO5B, KIF1B, RPGRIP1L, BBS10, PMPCA, IFT122, UROS, MMP2, ELANE, PRKDC, EXT2, SHOX, MRPL3, PLK4, DDX58, C5orf42, ACO2, NDUFS6, SLC25A4, ZBTB18, AVPR2, STRA6, AKT1, MAGEL2, CDKN1C, MPDU1, SIL1, ZDHHC15, TBX15, MC3R, ADA, SNAP29, DDOST, TRAC, HGSNAT, LYRM4, RUNX2, SUMF1, NHP2, LCK, HESX1, GPC3, GUCY2D, FLNA, PUS1, NR0B2, POLR3A, MCM9, RAB23, SMS, HCCS, DPP6, MPI, USB1, BMPR1B, HSD17B4, ASL, PHF6, PDHA1, TRAPPC11, ENTPD1, ATM, MC4R, GLB1, SPG11, SLC39A13, NSD1, NEB, PRKACA, DLX5, WNT1, GALC, TRPS1, HYAL1, KIAA0196, NDUFV2, CEP57, DIAPH1, CPS1, ZNF592, CD3G, IKBKAP, UBE3A, LIFR, GNPAT, FANCC, RSPRY1, L1CAM, MT-ND5, TACO1, ATP5A1, RET, TBX6, KCNJ2, CLPP, COQ4, DOLK, AMPD2, IFT80, GNRH1, SAR1B, MYH11, MT-ND1, ATR, MMAA, CKAP2L, SLC35D1, FTO, HSD3B7, COX15, MTRR, PORCN, RYR1, SHH