ABDOMEN

Associated diseases: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), SUPRANUCLEAR PALSY, PROGRESSIVE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MANNOSIDOSIS, ALPHA-, TYPES I AND II, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CILIARY DYSKINESIA, PRIMARY, 30, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MULTIPLE SULFATASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, GLUTARICACIDURIA, TYPE I, HERMANSKY-PUDLAK SYNDROME 1, NEPHRONOPHTHISIS 19, ACRODERMATITIS ENTEROPATHICA, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 19, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, CORNELIA DE LANGE SYNDROME 5, MOLYBDENUM COFACTOR DEFICIENCY A, SICKLE CELL ANEMIA, TRICHOHEPATOENTERIC SYNDROME 1, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, VELOCARDIOFACIAL SYNDROME, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUIJS-AALFS SYNDROME, AGNATHIA-OTOCEPHALY COMPLEX, ALAGILLE SYNDROME 2, GAUCHER DISEASE, TYPE IIIC, NATIVE AMERICAN MYOPATHY, INSOMNIA, FATAL FAMILIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, HELSMOORTEL-VAN DER AA SYNDROME, BOHRING-OPITZ SYNDROME, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, LEPRECHAUNISM, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, JOUBERT SYNDROME 6, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ?MARDEN-WALKER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, GLUCOSE/GALACTOSE MALABSORPTION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PEROXISOME BIOGENESIS DISORDER 14B, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MARTSOLF SYNDROME, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, FLOATING-HARBOR SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, SPINOCEREBELLAR ATAXIA 10, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, JOUBERT SYNDROME 15, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, CARPENTER SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, PRIMARY LATERAL SCLEROSIS, JUVENILE, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, TYROSINEMIA, TYPE I, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, NEPHRONOPHTHISIS 18, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ETHYLMALONIC ENCEPHALOPATHY, SPINOCEREBELLAR ATAXIA 19, WIEDEMANN-STEINER SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, FAMILIAL ADENOMATOUS POLYPOSIS 3, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TARP SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MEIER-GORLIN SYNDROME 2, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HMG-COA SYNTHASE-2 DEFICIENCY, BARDET-BIEDL SYNDROME 17, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MECONIUM ILEUS, LEUKODYSTROPHY, HYPOMYELINATING, 13, WRINKLY SKIN SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 7, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, HYPER-IGD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEBER CONGENITAL AMAUROSIS 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, VAN MALDERGEM SYNDROME 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, ASPARTYLGLUCOSAMINURIA, MUCOPOLYSACCHARIDOSIS IH/S, MCKUSICK-KAUFMAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ADAMS-OLIVER SYNDROME 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, PARAMYOTONIA CONGENITA, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, CPT DEFICIENCY, HEPATIC, TYPE II, COENZYME Q10 DEFICIENCY, PRIMARY, 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), IVIC SYNDROME, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, GLASS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CARTILAGE-HAIR HYPOPLASIA, DYSAUTONOMIA, FAMILIAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CAUDAL REGRESSION SYNDROME, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, CURRARINO SYNDROME, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), UROFACIAL SYNDROME 1, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, LIVER FAILURE, TRANSIENT INFANTILE, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, MENTAL RETARDATION, X-LINKED 98, ?DIARRHEA 7, CHEDIAK-HIGASHI SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, FUMARASE DEFICIENCY, COLE DISEASE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), JOUBERT SYNDROME 10, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, GAUCHER DISEASE, PERINATAL LETHAL, GLYCOGEN STORAGE DISEASE VI, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, NEMALINE MYOPATHY 10, CILIARY DYSKINESIA, PRIMARY, 25, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10, NIJMEGEN BREAKAGE SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, CILIARY DYSKINESIA, PRIMARY, 20, MECKEL SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, VACTERL ASSOCIATION, X-LINKED, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, D-BIFUNCTIONAL PROTEIN DEFICIENCY, LACTASE DEFICIENCY, CONGENITAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, MITCHELL-RILEY SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, STORMORKEN SYNDROME, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, ?CRANIOECTODERMAL DYSPLASIA 4, SESAME SYNDROME, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, HEMOCHROMATOSIS, TYPE 2A, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, {AUTISM, SUSCEPTIBILITY TO, 18}, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, MYOPATHY, SPHEROID BODY, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, BILE ACID MALABSORPTION, PRIMARY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, OMODYSPLASIA 1, AICARDI-GOUTIERES SYNDROME 5, PERIODIC FEVER, FAMILIAL, ADENOMAS, MULTIPLE COLORECTAL, 3MC SYNDROME 2, CONGENITAL DISORDER OF DEGLYCOSYLATION, C SYNDROME, METHYLMALONYL-COA EPIMERASE DEFICIENCY, PANCREATIC AND CEREBELLAR AGENESIS, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 8, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MULIBREY NANISM, SHWACHMAN-DIAMOND SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), OCCIPITAL HORN SYNDROME, IMMUNODEFICIENCY 19, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, CATEL-MANZKE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CARPENTER SYNDROME 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, ALPHA-METHYLACETOACETIC ACIDURIA, ACHONDROGENESIS IB, SADDAN, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, HERMANSKY-PUDLAK SYNDROME 2, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, OROFACIODIGITAL SYNDROME V, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MUCOLIPIDOSIS IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, GAUCHER DISEASE, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, ?OROFACIAL CLEFT 15, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, CONGENITAL SHORT BOWEL SYNDROME, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, GALACTOSEMIA, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, PEROXISOME BIOGENESIS DISORDER 3B, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, FRUCTOSE INTOLERANCE, CORNELIA DE LANGE SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SPINOCEREBELLAR ATAXIA 1, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, LACTASE PERSISTENCE/NONPERSISTENCE, MECKEL SYNDROME 7, NON-IMMUNE HYDROPS FETALIS, BRITTLE CORNEA SYNDROME 2, GM1-GANGLIOSIDOSIS, TYPE I, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, NEPHRONOPHTHISIS 2, INFANTILE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, MECKEL SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, RENAL TUBULAR ACIDOSIS, DISTAL, AR, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, CILIARY DYSKINESIA, PRIMARY, 29, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CILIARY DYSKINESIA, PRIMARY, 13, ALAGILLE SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MICROPHTHALMIA, SYNDROMIC 2, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, CHYLOMICRON RETENTION DISEASE, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, HYPEREKPLEXIA HEREDITARY, CORNELIA DE LANGE SYNDROME 2, FIBROCHONDROGENESIS 1, KRABBE DISEASE, ROBINOW SYNDROME, CHOPS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, MEIER-GORLIN SYNDROME 3, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, TRYPSINOGEN DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, GRACILE BONE DYSPLASIA, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SIALIC ACID STORAGE DISORDER, INFANTILE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, HYALINE FIBROMATOSIS SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CILIARY DYSKINESIA, PRIMARY, 26, ESCOBAR SYNDROME, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, HYPERLIPOPROTEINEMIA, TYPE 1D, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ADAMS-OLIVER SYNDROME 4, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PYRUVATE CARBOXYLASE DEFICIENCY, OLIGODONTIA-COLORECTAL CANCER SYNDROME, GITELMAN SYNDROME, LESCH-NYHAN SYNDROME, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, ULNAR-MAMMARY SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, 3MC SYNDROME 1, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, DYSTONIA 16, HYPOBETALIPOPROTEINEMIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, GREENBERG SKELETAL DYSPLASIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, NEPHRONOPHTHISIS 11, EPISODIC ATAXIA, TYPE 6, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, SENIOR-LOKEN SYNDROME 9, GLYCOGEN STORAGE DISEASE 0, MUSCLE, INFANTILE LIVER FAILURE SYNDROME 2, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, OSTEOGENESIS IMPERFECTA, TYPE XIII, CILIARY DYSKINESIA, PRIMARY, 17, STRIATONIGRAL DEGENERATION, INFANTILE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, GLYCOGEN STORAGE DISEASE VII, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GAUCHER DISEASE, TYPE II, HEMOCHROMATOSIS, TYPE 3, CILIARY DYSKINESIA, PRIMARY, 2, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, HERMANSKY-PUDLAK SYNDROME 7, OMENN SYNDROME, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, BARDET-BIEDL SYNDROME 10, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SPHEROCYTOSIS, TYPE 4, DIARRHEA 6, WILSON DISEASE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MUCOPOLYSACCHARIDOSIS VII, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, WAARDENBURG SYNDROME, TYPE 4A, ANGIOEDEMA, HEREDITARY, TYPE III, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MORBID OBESITY AND SPERMATOGENIC FAILURE, EHLERS-DANLOS SYNDROME, TYPE IV, KAUFMAN OCULOCEREBROFACIAL SYNDROME, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, BETA-UREIDOPROPIONASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LOEYS-DIETZ SYNDROME 3, ABLEPHARON-MACROSTOMIA SYNDROME, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, COCKAYNE SYNDROME, TYPE A, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, SITOSTEROLEMIA, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PAROXYSMAL EXTREME PAIN DISORDER, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, CILIARY DYSKINESIA, PRIMARY, 22, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, NIEMANN-PICK DISEASE TYPE C1, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, OPITZ GBBB SYNDROME, TYPE I, SPLENIC HYPOPLASIA, MECKEL SYNDROME 10, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CILIARY DYSKINESIA, PRIMARY, 28, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TRANSCOBALAMIN II DEFICIENCY, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, CENTRONUCLEAR MYOPATHY 5, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, YUNIS-VARON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, HYDROLETHALUS SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MICROPHTHALMIA, SYNDROMIC 12, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MECKEL SYNDROME 6, PONTOCEREBELLAR HYPOPLASIA TYPE 4, OHDO SYNDROME, X-LINKED, HYPERLIPOPROTEINEMIA, TYPE IB, ALLAN-HERNDON-DUDLEY SYNDROME, BIOTINIDASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, COMBINED SAP DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, SCHAAF-YANG SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, MULTIPLE ENDOCRINE NEOPLASIA IIA, KARTAGENER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOECTODERMAL DYSPLASIA 1, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, WOLFRAM SYNDROME 2, KAPPA LIGHT CHAIN DEFICIENCY, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, CORNELIA DE LANGE SYNDROME 3, MILLER SYNDROME, MYOTONIC DYSTROPHY 1, HYPERBILIVERDINEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, WISKOTT-ALDRICH SYNDROME, NEPHRONOPHTHISIS 3, AMYOTROPHIC LATERAL SCLEROSIS 17, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, COFFIN-SIRIS SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, VISCERAL MYOPATHY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GAUCHER DISEASE, TYPE III, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CITRULLINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COFFIN-SIRIS SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, LEUKODYSTROPHY, HYPOMYELINATING, 12, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, NETHERTON SYNDROME, PEUTZ-JEGHERS SYNDROME, OLMSTED SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, DUBIN-JOHNSON SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, JOUBERT SYNDROME 21, ?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, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY, COMMON VARIABLE, 2, HOLOPROSENCEPHALY-7, 5-OXOPROLINASE DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, COENZYME Q10 DEFICIENCY, PRIMARY, 1, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALLBLADDER DISEASE 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, NEPHRONOPHTHISIS 15, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, WHITE-SUTTON SYNDROME, HYPERCALCEMIA, INFANTILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, CPT DEFICIENCY, HEPATIC, TYPE IA, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, FAMILIAL MEDITERRANEAN FEVER, AD, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, PANCREATIC AGENESIS 2, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MANITOBA OCULOTRICHOANAL SYNDROME, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, SMED STRUDWICK TYPE, MUIR-TORRE SYNDROME, D-2-HYDROXYGLUTARIC ACIDURIA, ASPARAGINE SYNTHETASE DEFICIENCY, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, MYOTONIA CONGENITA, RECESSIVE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, ARTERIAL TORTUOSITY SYNDROME, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, AICARDI-GOUTIERES SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME 2, GELEOPHYSIC DYSPLASIA 1, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, MICROCEPHALY, AMISH TYPE, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PANCREATIC LIPASE DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, CILIARY DYSKINESIA, PRIMARY, 23, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, RETINITIS PIGMENTOSA 71, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 19, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, STAR SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HETEROTAXY, VISCERAL, 5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, ALSTROM SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, 3-M SYNDROME 1, GALLOWAY-MOWAT SYNDROME, ?IMMUNODEFICIENCY 37, COACH SYNDROME, POLYCYTHEMIA VERA, SOMATIC, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CILIARY DYSKINESIA, PRIMARY, 5, CARDIOFACIOCUTANEOUS SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SENIOR-LOKEN SYNDROME 8, GLUTARIC ACIDURIA III, LYMPHEDEMA, HEREDITARY, III, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, DESANTO-SHINAWI SYNDROME, FARBER LIPOGRANULOMATOSIS, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, CYCLIC VOMITING SYNDROME; CVS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, KABUKI SYNDROME 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, GLYCOGEN STORAGE DISEASE XII, STROMME SYNDROME, PETERS-PLUS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, TRIGONOCEPHALY 1, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, PITT-HOPKINS SYNDROME, BURN-MCKEOWN SYNDROME, PSORIASIS 14, PUSTULAR, RETT SYNDROME, CONGENITAL VARIANT, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, DIAPHANOSPONDYLODYSOSTOSIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, VITAMIN D-DEPENDENT RICKETS, TYPE I, LOWE SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, BIRT-HOGG-DUBE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BARDET-BIEDL SYNDROME 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TATTON-BROWN-RAHMAN SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OCULODENTODIGITAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ROIFMAN SYNDROME, RIGHT ATRIAL ISOMERISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, MAST SYNDROME, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, CYANOSIS, TRANSIENT NEONATAL, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?MECKEL SYNDROME 9, WHITE SPONGE NEVUS 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, JOUBERT SYNDROME 2, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CITRULLINEMIA, ADULT-ONSET TYPE II, PITT-HOPKINS-LIKE SYNDROME 2, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, NEPHRONOPHTHISIS 16, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), MECKEL SYNDROME 1, ACHONDROGENESIS, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, SOTOS SYNDROME 2, VAN MALDERGEM SYNDROME 1, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, VERHEIJ SYNDROME, TENORIO SYNDROME, NEPHRONOPHTHISIS 13, IMMUNODEFICIENCY 14, GM1-GANGLIOSIDOSIS, TYPE III, PANCREATIC AGENESIS 1, BARTTER SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, WIEACKER-WOLFF SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CHANARIN-DORFMAN SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, GRAY PLATELET SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, LYMPHOPROLIFERATIVE SYNDROME 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, CRANIOECTODERMAL DYSPLASIA 3, GENITOPATELLAR SYNDROME, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, LATHOSTEROLOSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHILD SYNDROME, METACHROMATIC LEUKODYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, PCWH SYNDROME, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, POIKILODERMA WITH NEUTROPENIA, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, COLD-INDUCED SWEATING SYNDROME 1, AGAMMAGLOBULINEMIA 6, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ABETALIPOPROTEINEMIA, UROFACIAL SYNDROME 2, ANGIOEDEMA, HEREDITARY, TYPES I AND II, RENPENNING SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, CILIARY DYSKINESIA, PRIMARY, 18, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, MECKEL SYNDROME 5, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA, FOLATE MALABSORPTION, HEREDITARY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, DIABETES INSIPIDUS, NEPHROGENIC, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, WEAVER SYNDROME, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, GM1-GANGLIOSIDOSIS, TYPE II, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, AGAMMAGLOBULINEMIA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, CILIARY DYSKINESIA, PRIMARY, 16, MISMATCH REPAIR CANCER SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, DIGEORGE SYNDROME, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, LYMPHOPROLIFERATIVE SYNDROME 2, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CRYOHYDROCYTOSIS, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, MOLYBDENUM COFACTOR DEFICIENCY B, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, COFFIN-LOWRY SYNDROME, CODAS SYNDROME, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, DENT DISEASE 2, SPHEROCYTOSIS, TYPE 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, INTRINSIC FACTOR DEFICIENCY

Associated genes: UROD, ADAMTS13, MSH6, PQBP1, TMEM216, EDNRA, ZMYND10, TSC2, NGLY1, SPINT2, PKD1, ACADS, PRRX1, CC2D2A, LBR, C3AR1, GNAS, WNT5A, CIITA, VPS13A, COL3A1, MUC5B, MCOLN1, RNASEH2A, FTL, SFTPA2, GUSB, RBBP8, POLD1, TSPYL1, ETHE1, HBB, SLC6A3, DNAH14, BCOR, CDC6, CHD8, WDR73, TRIP4, SLC19A1, TMEM237, SLC17A5, SPINK1, ENG, MT-TQ, DST, PTRH2, DPM2, FH, MT-TE, NAGS, PNPT1, TRIM32, DOK7, FREM1, NCF4, GFI1B, PMS2, TGFBR2, HPSE2, BCKDHB, PIGM, GNE, LIPT1, GTPBP3, PRPS1, TRMT5, EPCAM, DYNC2H1, PTEN, SNIP1, SUGCT, MYOT, MT-TS1, ATRX, SCN4A, FGFR3, SOX2, KDM6A, APOA1, B9D2, NDUFAF3, NALCN, ADNP, PHKA2, HAMP, NKX2-5, LONP1, OCRL, NDUFA1, CD79A, SQSTM1, CHAMP1, THRA, MRPL44, CBS, BUB1B, IGF2R, SKIV2L, ASAH1, NOD2, MT-ND6, LIFR, TAF6, ALG11, TNXB, PIK3CD, GTF2H5, ALAD, ORC6, PYCR1, STT3A, IRAK3, MTM1, KCNJ1, TALDO1, NTHL1, CEP164, GPC6, ANK1, SUCLA2, GDNF, SPEG, VPS33B, SGSH, CNTN5, RSPH3, MKKS, UBR1, HSPD1, ROR2, HYDIN, UBN1, ABCD4, NTF3, KRAS, RYR1, TNNT2, ALAS2, FBXL4, AVPR2, AGT, ADAMTSL2, KMT2A, AHI1, DNMT3A, DYX1C1, SMC3, NDUFS7, PMM2, MT-CO1, GATA1, ISPD, BMP1, TAPT1, MEN1, ALDOA, PRKRA, PEX26, CTNNB1, IL2RA, NDUFS3, SCO2, XYLT2, NSDHL, LRRK2, PIGY, CHST14, TMCO1, SLC4A1, CEP290, NDUFAF2, CD40LG, GPIHBP1, FAT4, LEP, APC, PCK1, CHRNA1, NARS2, TTC7A, NUP62, CISD2, HES7, TCTN1, GCDH, FLVCR1, VPS11, FZD6, MMACHC, RIPK4, CPT2, INPPL1, MARS2, BLNK, ICR1, LRPPRC, PRKCD, SLC5A1, NONO, UBE3A, CFH, ABCB4, HFE, TRMU, COX15, ZNF423, EZH2, GLI3, MET, RPGRIP1L, RNU4ATAC, PCCA, DNAH1, PEX13, MT-TH, NOTCH3, HSPA9, ORC1, EFNB1, CUBN, MBD5, TSFM, IL1RN, MUSK, PAX4, KIAA2022, CTC1, COQ4, CDON, GJC2, ADK, SLC7A7, POLA1, HMBS, RFX6, DPM1, SLC2A1, ACVRL1, GIF, TRIP11, TMEM5, BBS7, PYGL, SLC46A1, SEPN1, UNC80, HGSNAT, PIGA, TRMT10A, STK11, LAMA2, SEC23A, B9D1, COL5A2, DCDC2, GMPPA, DNAAF1, CDKN3, RPS26, HPD, BCL10, DMPK, RPL11, HMGCS2, NR4A2, IER3IP1, D2HGDH, HLA-B, SRCAP, NDUFS4, ENPP1, SPRTN, DPYS, DNAAF2, EDN3, PEX12, CIDEC, SEC23B, FKRP, SALL4, THBS4, KRT13, RAB40AL, HLA-DQB1, BDNF, PINK1, GLRA1, RNF113A, SLC35A2, CTCF, MLYCD, KAT6A, POMK, FANCL, LIPA, ATXN3, ATP7A, SARS2, FMR1, PC, POLR3B, PDSS2, CYP7B1, ARID1A, SPTB, ARSB, EPM2A, GCH1, MT-TS2, PSAT1, MMP1, NOP10, MMAA, NDUFS2, CCBE1, PEX14, GNPTAB, PARK7, TREX1, FARS2, APOB, COQ9, TNFRSF13B, LRRC6, ABCC2, MKS1, GP1BA, MT-CO2, ACTB, BBS12, FAT3, MOCS2, RPS7, PSEN1, DGUOK, CHCHD10, SNX10, TERT, B3GLCT, PCCB, SSR4, ASCC1, NPC1, TSR2, ITGA2B, BMP2, MCCC2, NDUFB3, IDUA, FGA, BAAT, FOXRED1, HADH, SPG7, SLC25A1, IKBKAP, PTRF, USB1, DNAH8, NEK8, EOGT, DES, BMPER, CDT1, PKHD1, FADD, COG6, PRF1, CDC73, POR, BBS2, TERC, DLD, DLL4, MUTYH, PET100, ESCO2, CD79B, RBCK1, SLC9A3, IL2RG, CUL7, SF3B4, SBDS, FIG4, IVD, SHOC2, CHMP1A, DDC, DNAI2, SCN11A, PARK2, ALDOB, MAP2K2, SERPINA1, CREBBP, GUCY2D, MPI, SLC34A3, FAM58A, SLC30A10, PKLR, MYCN, FBP1, SLC19A3, WDR19, ATXN8OS, MCEE, GNS, ITGB4, AMACR, PRKAG2, CD3E, POLG, SCARB2, SLC29A3, SLC39A4, AFF4, PLEC, CA12, EXOSC8, AUTS2, SFTPA1, ESR1, DLX4, CARD9, THSD1, ADH1C, MYOM1, RBM10, ARL2BP, RHAG, LRP5, EARS2, KAT6B, RMRP, KDR, HPRT1, STAC3, SPECC1L, CCDC28B, ALG3, WDPCP, NLRC4, ACTA2, IL7R, AICDA, STX11, BOLA3, GPHN, RARB, NHLRC1, UQCC3, AKR1D1, PIEZO2, NFKB2, B3GAT3, SLC26A3, AMN, NCF1, STIM1, ADAM17, PDGFRL, SLC2A2, FOLR1, PHKB, MMAB, MT-TL1, ALG1, HBG2, DNAJB6, FGB, SMAD9, CHAT, SNRPN, CYP27B1, SC5D, GMPPB, RIN2, PEX11B, UBE3B, MASP1, TMEM70, TNFAIP3, SLC52A2, TGDS, HRAS, NDN, BBS10, MCM4, SIK1, TXNL4A, CD27, PCSK1, MGME1, NPHP3, FGFR1, ASCL1, NAGLU, MUT, AXIN2, PEX3, FAM111B, EGFR, COG4, TINF2, NCF2, LRP2, IKBKB, SCNN1G, DYRK1B, TCTN2, UROS, SNCA, AIRE, SLC2A10, PSTPIP1, PSMB8, DGAT1, HK1, PRSS1, TJP2, FREM2, RAD51C, KCNH1, ANTXR1, STEAP3, ITGA6, KIT, MT-ND3, SCYL1, AGPAT2, NDUFV1, OTC, VDR, PEX1, SH2B3, AR, SLC26A2, CHRNE, VPS45, SETX, GAA, NODAL, KRT8, ALDH6A1, LMOD3, TBCK, PACS1, ABCC6, ZC4H2, MRPL3, PRKCSH, AKT1, CLDN1, MRPS22, APOC2, GATA6, COLQ, KMT2D, DTNBP1, EIF2AK3, CCDC103, IDS, CARS2, STAT1, ZFYVE26, EXOC8, ZBTB24, TCIRG1, ATXN1, RFX5, RECQL4, NOS3, PLG, FRAS1, NDUFB9, SERAC1, NIPBL, TRIM37, WDR60, SHMT1, OFD1, COLEC11, PCNA, ITPA, DCLRE1C, AGA, CTLA4, KIF1BP, VPS35, PEX16, SLC16A2, TMEM67, SLC10A2, TYMP, APOPT1, ADA, PRDM5, EPOR, SMAD3, SLC25A20, FKBP14, CCDC151, EXT2, SKI, C10orf2, GPD1, SATB2, SYT14, PDX1, LMNA, DDX59, F2, TSEN2, CD3D, KCNJ10, CASP10, LCT, SALL1, IL10RB, RAD21, SCNN1A, IFIH1, FAS, FUCA1, DNAAF3, CENPF, INVS, PEX6, ABCD3, EFTUD2, NRXN1, CYP11B2, MMP21, ATP6V1B2, GALNS, XPNPEP3, IGKC, MCM6, MOGS, MTHFR, PPP1R3A, UBQLN2, WDR35, DNAH5, BTD, ERCC8, BTK, IRX5, EIF4A3, SHANK3, NEB, PIGC, COQ7, STAT3, CCDC115, OPLAH, LIPE, IGHM, IL21R, ITCH, PDP1, ARX, PPP1R15B, CCDC174, TECPR2, NFKBIA, COX8A, PIK3CA, GALT, ABCD1, LTBP4, ST3GAL5, SPAG1, DNAI1, COX4I2, HADHA, MTO1, NAA10, TBK1, CLMP, BCS1L, COL2A1, ACOX1, RAG2, ARNT2, ACTA1, NECAP1, ANKS6, GRIP1, LRIG2, SMARCA4, ICOS, TWIST2, NDUFAF6, ATP8B1, CDKL5, FAM134B, ABCB11, ARMC4, SLC25A15, SMARCE1, IGF2, FERMT3, NOTCH2, CECR1, PTF1A, CCND1, MAPT, PIEZO1, CAD, IL21, MLH1, ERCC6, CHRM3, ATXN10, CRLF1, MT-TK, ASXL1, HNRNPK, KCND3, ABCA1, JAK2, PLOD1, ARG1, NDUFAF4, TUBB4A, SNCAIP, CEL, POGZ, ACAD9, GRHL2, TTC8, MPC1, GLIS3, SERPING1, PFKM, SGO1, DHODH, TNFRSF1A, ADAMTS2, ALPL, TBX3, GUCY2C, MEGF8, GSC, SMC1A, GP9, SLC25A13, CLDN16, PANK2, WAS, IFT140, TBX1, ARID1B, INS, MOCS1, CHMP2B, COL11A2, COL7A1, XK, FASLG, DIS3L2, RPSA, YARS2, DDHD2, ACAT1, GNMT, AMHR2, NBAS, C15orf41, PTDSS1, SLC22A5, SLC25A19, G6PC3, ABCG8, HLA-DRB1, TMPRSS6, CNTN1, TGFB1, SLC6A8, MCIDAS, HNF4A, RAPSN, ARL6, SMARCAL1, LTBP2, DPYD, PPOX, HFE2, HIBCH, CYBA, BIN1, CYBB, COQ2, KLF1, ALDH18A1, MNX1, FBN1, ACVR1B, MT-ND1, USP9X, SEMA3D, PTS, FECH, SCN1A, ORC4, DBT, VANGL1, ZBTB42, TMEM165, ACTG2, MCCC1, TTN, TSHB, DNAAF5, H19, ACADM, AQP2, ALMS1, MTTP, RFXAP, POLG2, LZTFL1, AMER1, COX10, CHRND, CFC1, SPINK5, ATPAF2, SH2D1A, HIKESHI, LRP4, GBE1, SERPINC1, PGM1, ATXN2, CCNO, WNK1, SLC40A1, SMARCB1, HDAC8, MYH7, PRICKLE2, DHCR7, COX14, MT-ND4, PUF60, PHKG2, CEP41, AHNAK, G6PC, RPS6KA3, JAK3, TBP, GFRA1, AP3B1, COL11A1, XYLT1, ERCC4, DKC1, NEK1, SAMHD1, TCF4, HYLS1, FSHR, POLE, LRBA, UQCRB, VAMP1, PDE10A, PNPLA2, C12orf65, GBA, SUCLG1, ABCC9, FTH1, DRC1, ACD, STRADA, CLASP1, PIGV, BBS9, TARS2, F12, PAM16, EDNRB, FASTKD2, TSEN54, NDUFS6, MTR, NDUFAF5, CEP19, BSCL2, OCLN, ZAP70, MPLKIP, AAAS, SLC12A1, SLC12A3, TMEM199, DHFR, ALG13, SLC37A4, PNLIP, ALS2, BRCA2, MPV17, HLCS, CLCN1, IFT43, CD96, BBIP1, COL1A1, DNAJC19, CHRNG, SLC52A3, PABPN1, NDUFA11, PIGT, DNM2, MT-CO3, RTEL1, NKX3-2, SLCO1B3, SLC1A3, RNASEH1, NBN, SLCO1B1, PPARG, TFR2, COL5A1, FAM111A, AGL, SMPD1, STT3B, NEUROG3, DSG1, TCN2, TRAF3IP1, SOX10, PAX8, CFAP53, BLVRA, MAN2B1, TNF, KCNN4, COX6B1, RAB3GAP2, PNPO, AARS, CASP8, SDHC, KCNQ1OT1, SUFU, NEU1, PLA2G6, ALG2, COX20, SERPINH1, NOTCH1, EFEMP2, AFG3L2, ERCC2, COL13A1, REEP1, FGD1, RSPH1, SMAD4, BBS5, VIPAS39, CPT1A, FGG, SLC5A5, KIF7, MSH2, CNTNAP1, ABHD5, DNMT3B, ATP6V0A2, MATR3, RRM2B, PTCH1, DVL3, ASNS, TAF1, PIGO, SETD5, NLRP12, TP53, FGFR2, C21orf59, PTPRC, FLCN, VHL, GLUD2, TRAPPC11, SCNN1B, CDAN1, GP1BB, CPOX, LMNB1, CD3G, DNAL1, ARSA, EPHX1, MID1, SDHB, TARDBP, AKT2, GFM1, PTCH2, SPG21, ANTXR2, BCKDHA, SCO1, MEGF10, KRT18, HLA-DQA1, CCDC114, IL6, ASS1, MT-TD, TPM2, ELOVL4, ZIC3, WNT3, MYH8, MPZ, EP300, RTTN, AP1S1, MBTPS2, RSPH4A, NR3C2, CLPB, SLC19A2, PEPD, KIF1A, ABCG5, ZEB2, ITK, WAC, ACADVL, CTNS, CYP24A1, RFXANK, NFU1, SPATA5, DCHS1, ABCC8, JAM3, GDF2, PITX2, CEP83, PLIN1, LARS, TTR, GPC3, KCNJ11, CACNA1G, DVL1, GJA1, CFHR3, TTC21B, INPP5E, SLC9A6, RPS28, PURA, MRPS16, CHRNB1, MECP2, MVK, CSPP1, TGFB3, CHD7, CASR, FOXF1, GCK, MTUS1, KIF1B, NDUFAF1, NRAS, FOXP3, FGF20, FOXG1, IFT122, FBN2, FBLN5, GALE, HADHB, DNAH11, NDUFS1, RMND1, IL36RN, CFTR, RBM8A, MED12, GYS1, SEC63, EXOSC3, PHOX2B, UPB1, MED17, CEP120, PLAU, RAG1, STRA6, TRPV3, MAGEL2, JAG1, GLRX5, CDKN1C, ATP7B, MPDU1, PIGN, SEMA3E, NFIX, WDR34, NUBPL, BRAF, NPC2, DDOST, AXIN1, LMBRD1, LYRM4, SUMF1, CYC1, LCK, NME1, FLNA, DNAJC13, PSAP, RAB23, HCCS, HPCA, PEX2, HSD17B4, KIAA0196, ASL, PRNP, TXN2, LYST, AMH, HSPG2, GLB1, HNF1B, QDPR, NSD1, ZHX2, FCGR2A, POLR3A, INSR, GALC, CARD11, IFT172, IL10RA, SCN9A, NDUFV2, CEP57, NME8, CPS1, GUCY1A3, ZNF592, PLCG2, HSD3B7, SLC16A1, MARS, GLA, MEFV, PDGFRA, L1CAM, PODXL, MT-ND5, BBS4, TACO1, RET, GDF1, PEX19, GALNT14, PNP, MTRR, POLR2F, ITGB3, BBS1, RARS2, TTC37, RNF125, CFHR1, SAR1B, MYH11, ADCY6, RFT1, NHP2, CR2, FAH, NBEAL2, HPS1, KRIT1, PORCN, TPM3, PIK3R1