CARDIOVASCULAR

Associated diseases: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, VERHEIJ SYNDROME, LONG QT SYNDROME 12, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, TYROSINEMIA, TYPE I, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BARTTER SYNDROME, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, DIAMOND-BLACKFAN ANEMIA 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CILIARY DYSKINESIA, PRIMARY, 30, SECKEL SYNDROME 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, NEPHRONOPHTHISIS 18, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CARASIL SYNDROME, OPITZ GBBB SYNDROME, TYPE II, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DANON DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, VELOCARDIOFACIAL SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, FILIPPI SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, ALAGILLE SYNDROME 2, GAUCHER DISEASE, TYPE IIIC, COFFIN-LOWRY SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, BRUGADA SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HELSMOORTEL-VAN DER AA SYNDROME, BOHRING-OPITZ SYNDROME, MEND SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CARDIOMYOPATHY, DILATED, 3B, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, LIPOYLTRANSFERASE 1 DEFICIENCY, ATRIAL FIBRILLATION, FAMILIAL, 14, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, MUCOPOLYSACCHARIDOSIS II, ?MARDEN-WALKER SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, SINGLETON-MERTEN SYNDROME 1, LOEYS-DIETZ SYNDROME 3, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, PEROXISOME BIOGENESIS DISORDER 14B, ATRANSFERRINEMIA, MARTSOLF SYNDROME, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MUSCULAR DYSTROPHY, CONGENITAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, FLOATING-HARBOR SYNDROME, LEBER OPTIC ATROPHY, TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3, FRAGILE X SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 4, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FRONTONASAL DYSPLASIA 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, HOLT-ORAM SYNDROME, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, LONG QT SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, PARAGANGLIOMAS 3, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, LONG QT SYNDROME 5, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CILIARY DYSKINESIA, PRIMARY, 20, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, VENTRICULAR TACHYCARDIA, IDIOPATHIC, KEUTEL SYNDROME, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, BARDET-BIEDL SYNDROME 17, HEMOCHROMATOSIS TYPE 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TRIMETHYLAMINURIA, TUBEROUS SCLEROSIS-1, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, MALONYL-COA DECARBOXYLASE DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, SMITH-MAGENIS SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, SICK SINUS SYNDROME 2, MARSHALL-SMITH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, DUCHENNE MUSCULAR DYSTROPHY, LATERAL MENINGOCELE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, DYSAUTONOMIA, FAMILIAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, MARFAN LIPODYSTROPHY SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME 2, CHOPS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, ATRIOVENTRICULAR SEPTAL DEFECT 5, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MITOCHRONDRIAL MIOPATHY, LETHAL, INFANTILE; LIMM, 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, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), RENAL GLUCOSURIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, GAUCHER DISEASE, PERINATAL LETHAL, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SHWACHMAN-DIAMOND SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 25, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, TARP SYNDROME, DONNAI-BARROW SYNDROME, CHAR SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, SILVER-RUSSELL SYNDROME, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, VACTERL ASSOCIATION, X-LINKED, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEUROFIBROMATOSIS-NOONAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MUCOPOLYSACCHARIDOSIS IS, ARTERIAL TORTUOSITY SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 9, LEOPARD SYNDROME 3, ATRIAL SEPTAL DEFECT 6, C SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, STORMORKEN SYNDROME, KABUKI SYNDROME 2, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DUANE-RADIAL RAY SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, WOODHOUSE-SAKATI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, ?CARDIOMYOPATHY, HYPERTROPHIC, 19, SHPRINTZEN-GOLDBERG SYNDROME, HEMOCHROMATOSIS, TYPE 2A, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CALCIFICATION OF JOINTS AND ARTERIES, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, OMODYSPLASIA 1, BRUGADA SYNDROME 9, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, LONG QT SYNDROME 6, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PANCREATIC AND CEREBELLAR AGENESIS, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, CARDIOMYOPATHY, HYPERTROPHIC, 20, SOTOS SYNDROME 1, CHOANAL ATRESIA AND LYMPHEDEMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, BARTH SYNDROME, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, COFFIN-SIRIS SYNDROME 3, CATEL-MANZKE SYNDROME, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, CARPENTER SYNDROME 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, AMYLOIDOSIS, FINNISH TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, MUCOLIPIDOSIS III ALPHA/BETA, PSEUDOHYPOALDOSTERONISM, TYPE IIE, JOHANSON-BLIZZARD SYNDROME, OROFACIODIGITAL SYNDROME V, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, WHITE-SUTTON SYNDROME, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ATRIAL FIBRILLATION, FAMILIAL, 7, ADAMS-OLIVER SYNDROME 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, NOONAN SYNDROME 8, NON-IMMUNE HYDROPS FETALIS, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CEREBROTENDINOUS XANTHOMATOSIS, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, MECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 1, NOONAN SYNDROME 10, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, HYPERTENSION AND BRACHYDACTYLY SYNDROME, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 4, NEPHRONOPHTHISIS 2, INFANTILE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, ANDERSEN SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, CILIARY DYSKINESIA, PRIMARY, 13, OSTEOGENESIS IMPERFECTA, TYPE VII, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ELLIS-VAN CREVELD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, DOOR SYNDROME, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, FIBROCHONDROGENESIS 1, ATRIAL STANDSTILL 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEU-LAXOVA SYNDROME 1, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, APPARENT MINERALOCORTICOID EXCESS, ATRIAL SEPTAL DEFECT 8, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, ?GLYCOGEN STORAGE DISEASE XV, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, AORTIC ANEURYSM, FAMILIAL THORACIC 6, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, CARDIOMYOPATHY, HYPERTROPHIC, 11, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SIALIC ACID STORAGE DISORDER, INFANTILE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CARDIOMYOPATHY, HYPERTROPHIC, 16, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, CARDIOMYOPATHY, DILATED, 1LL, LEFT VENTRICULAR NONCOMPACTION 8, RESTRICTIVE DERMOPATHY, LETHAL, GELEOPHYSIC DYSPLASIA 2, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, EPISODIC PAIN SYNDROME, FAMILIAL, ADAMS-OLIVER SYNDROME 4, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, {VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2}, COMPLEMENT FACTOR I DEFICIENCY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, KLIPPEL-FEIL SYNDROME 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GENITOPATELLAR SYNDROME, CILIARY DYSKINESIA, PRIMARY, 17, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ATRIAL FIBRILLATION, FAMILIAL, 6, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, HEMOCHROMATOSIS, TYPE 3, CILIARY DYSKINESIA, PRIMARY, 2, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, LONG QT SYNDROME 13, COCKAYNE SYNDROME, TYPE B, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, DIAMOND-BLACKFAN ANEMIA 6, OPTIC ATROPHY 7, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MORBID OBESITY AND SPERMATOGENIC FAILURE, SC PHOCOMELIA SYNDROME, CARDIOMYOPATHY, DILATED, 1CC, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SCALP-EAR-NIPPLE SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, CENTRONUCLEAR MYOPATHY 5, AORTIC VALVE DISEASE 2, FUCOSIDOSIS, LYMPHEDEMA, HEREDITARY, IA, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, COCKAYNE SYNDROME, TYPE A, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, CARDIOMYOPATHY, HYPERTROPHIC, 3, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PAROXYSMAL EXTREME PAIN DISORDER, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, DILATED, 1HH, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, OPITZ GBBB SYNDROME, TYPE I, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, BEAULIEU-BOYCOTT-INNES SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ?CARDIOMYOPATHY, DILATED, 2B, {METABOLIC SYNDROME, PROTECTION AGAINST}, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, YUNIS-VARON SYNDROME, SICK SINUS SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, ADAMS-OLIVER SYNDROME 6, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, BURN-MCKEOWN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CORNELIA DE LANGE SYNDROME 2, LONG QT SYNDROME 15, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, MOYAMOYA 6 WITH ACHALASIA, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROPHTHALMIA WITH LIMB ANOMALIES, SERKAL SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, CRANIOECTODERMAL DYSPLASIA 1, AL-RAQAD SYNDROME, POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, CORNELIA DE LANGE SYNDROME 3, MYOTONIC DYSTROPHY 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, ATRIAL SEPTAL DEFECT 5, COHEN SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, LEFT VENTRICULAR NONCOMPACTION 7, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, JOUBERT SYNDROME 14, VICI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COFFIN-SIRIS SYNDROME 2, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, CHILBLAIN LUPUS, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, DILATED CARDIOMYOPATHY 1DD, MCKUSICK-KAUFMAN SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, VENTRICULAR SEPTAL DEFECT 2, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, BARTTER SYNDROME, TYPE 3, HAY-WELLS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, D-2-HYDROXYGLUTARIC ACIDURIA, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 3, OROFACIODIGITAL SYNDROME I, BRITTLE CORNEA SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, {ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2}, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?SNEDDON SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, PSEUDOHYPOALDOSTERONISM, TYPE 2, HERMANSKY-PUDLAK SYNDROME 1, PARAGANGLIOMAS 4, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, LONG QT SYNDROME-3, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, MYOPATHY, MYOFIBRILLAR, 3, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, WOLFF-PARKINSON-WHITE SYNDROME, STAR SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, RITSCHER-SCHINZEL SYNDROME 2, HETEROTAXY, VISCERAL, 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MANNOSIDOSIS, BETA, ALSTROM SYNDROME, {RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO}, HYPOPLASTIC OR APLASTIC TIBIA WITH POLYDACTYLY, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, DIGEORGE SYNDROME, ?CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY, ATRIAL FIBRILLATION, FAMILIAL, 11, GLUCOCORTICOID RESISTANCE, CARDIOMYOPATHY, DILATED, 1JJ, MUCOLIPIDOSIS III GAMMA, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, GLUTARIC ACIDURIA III, LYMPHEDEMA, HEREDITARY, III, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, CYCLIC VOMITING SYNDROME; CVS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 7, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, PETERS-PLUS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, CHIME SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, NOONAN SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PULMONARY HYPERTENSION, PRIMARY, 2, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, MYXOMA, INTRACARDIAC, ATRIAL FIBRILLATION, FAMILIAL, 13, ATRIAL FIBRILLATION, FAMILIAL, 12, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ROIFMAN SYNDROME, RIGHT ATRIAL ISOMERISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, PSEUDOHYPOALDOSTERONISM, TYPE IID, ALKAPTONURIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 16, GLYCOGEN STORAGE DISEASE IA, ?HYDROXYKYNURENINURIA, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, LEUKODYSTROPHY, HYPOMYELINATING, 13, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, SMITH-LEMLI-OPITZ SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, TENORIO SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, SPINAL MUSCULAR ATROPHY-1, BARTTER SYNDROME, TYPE 1, SHORT QT SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, GM1-GANGLIOSIDOSIS, TYPE I, GLYCOGEN STORAGE DISEASE II, PAGET DISEASE OF BONE 6, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DENTAL ANOMALIES AND SHORT STATURE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COENZYME Q10 DEFICIENCY, PRIMARY, 5, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, CRANIOECTODERMAL DYSPLASIA 3, OSTEOGENESIS IMPERFECTA, TYPE XIII, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPOPLASTIC LEFT HEART SYNDROME 1, VLCAD DEFICIENCY, PERLMAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHILD SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, SECKEL SYNDROME 9, PSEUDOHYPOALDOSTERONISM, TYPE IIB, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP L, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CARDIOMYOPATHY, DILATED, 1X, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CARDIOMYOPATHY, HYPERTROPHIC, 17, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, ATRIAL FIBRILLATION, FAMILIAL, 10, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, COENZYME Q10 DEFICIENCY, PRIMARY, 2, MITRAL VALVE PROLAPSE 2, JOUBERT SYNDROME 18, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUCOPOLYSACCHARIDOSIS IH/S, PULMONARY VENOOCCLUSIVE DISEASE 2, 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, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CARDIOMYOPATHY, HYPERTROPHIC, 7, ADAMS-OLIVER SYNDROME 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SMITH-KINGSMORE SYNDROME

Associated genes: CALM1, TSC2, DCPS, HBB, FGFR1, PROS1, TCTN3, DYRK1B, ACADS, LBR, C3AR1, CUL3, WNT5A, GLI3, COL3A1, SNIP1, SFTPA2, GUSB, SLC5A2, RBBP8, TSPYL1, ETHE1, TTC7A, DNAH14, NSDHL, KCNH2, CLN3, TRIP4, TMEM237, SLC17A5, PTPN14, ENG, MT-TQ, KIF7, ESCO2, TERT, ERCC6, TBC1D24, DTNA, FAM58A, HPGD, G6PC, PTCH2, WNK1, SGCG, TGFBR2, DNAI2, PIGM, HGD, LIPT1, MED25, TRMT5, DYNC2H1, UBN1, PTEN, SUGCT, MYOT, RASA1, TPM1, ALMS1, SOX2, KDM6A, APOA1, NDUFAF3, IFNG, HAMP, COL6A2, LONP1, IDS, GNAS, GSN, THRA, THPO, CBS, CCDC151, HCN4, TNNI3, CFH, MT-ND6, APP, MGAT2, CTSA, PGM1, AMER1, MYLK, ALG10, DSP, TBX5, ATRX, KCNJ1, TALDO1, JAK2, TPM2, GPC6, NRXN1, CYP4F22, SPEG, VPS33B, MIB1, RSPH3, GALNT3, UBR1, ROR2, HYDIN, MT-CYB, EFTUD2, ABCD4, NDUFA1, ALDH18A1, RYR1, TNNT2, FBXL4, AVPR2, GNB3, AGT, ADAMTSL2, KMT2A, FAH, DNMT3A, SMC3, SLC12A1, GATA1, TAB2, BMP1, BANF1, CCDC22, FANCE, AGL, HFE2, MT-TE, HMBS, SUFU, SMAD4, GNPTAB, NOS1AP, CHST14, TMCO1, GDNF, CEP290, NDUFAF2, FOXC1, CRTAP, LRP5, FAT4, CFB, CHRNA1, PQBP1, VMA21, CASQ2, SLC40A1, HES7, DBH, GDF1, MMACHC, CPT2, AIP, ZNF687, ADAMTS10, TANGO2, HFE, SH3PXD2B, COX15, PRICKLE2, TWIST1, ERCC8, PIGC, DNAH1, CD96, MT-TH, FANCA, HSPA9, CALM2, ECHS1, PTPN22, CRYAB, NAA10, ZEB2, COQ4, ADK, IFT122, CHST3, DPM1, ZFPM2, GJA5, HNRNPK, SEPN1, HABP2, PIGL, PUF60, COL5A2, LPL, SOS2, GATA4, DNAAF1, NDUFAF5, DMPK, LIG3, MT-CO2, D2HGDH, HLA-B, SRCAP, NDUFS4, ENPP1, TPK1, DST, DNAAF2, FKTN, SEC23B, COL4A3, GMPPA, ZMPSTE24, KCNK3, NLRP5, SNRPB, SMAD6, MEF2A, MLYCD, TFAP2B, FANCL, COL1A2, EGFR, MYH9, TMEM43, TF, COX7B, FBP1, ARID1A, RPL5, COL11A1, TSC1, ARHGAP31, PDE4D, MT-TS2, PCK1, PEX5, SKI, CCBE1, UGT1A1, ARMC5, AGK, RPS26, TREX1, IRX5, TRAIP, RNU4ATAC, MKS1, DYX1C1, F5, SEMA3E, CACNA1B, PSEN1, KLHL3, B3GLCT, PCCB, TNXB, PDSS1, PDE11A, ASCC1, APOPT1, GJA1, IDUA, MYH7, SMOC1, DNASE1, WT1, COL4A5, IKBKAP, BAG3, DNAH8, NEK8, EOGT, DES, MT-CO3, PKHD1, PCCA, GALNS, CYP11B1, JAG1, MEFV, TERC, DLD, DLL4, KCNMB1, PET100, GNAI2, SF3B4, SBDS, FIG4, SHOC2, SCN1B, ACTC1, DSG2, ABCC6, NPPA, CREBBP, NDUFAF1, PRDM16, CEP120, SGCA, NOTCH1, MYCN, FKRP, TTC37, GNS, EDNRA, NR2F2, MYBPC3, AFF4, SP110, GTPBP3, KCNE1, ESR1, LIAS, KMT2C, EARS2, THSD1, ABCC9, MYOM1, RBM10, MRPS16, JUP, NRAS, LIPC, KAT6B, DRC1, GPC3, PRKG1, SPECC1L, PPP1R17, WDPCP, TAZ, ACTA2, FGF23, CLCNKB, BOLA3, EPG5, NUBPL, ADD1, SLC26A3, KAT6A, PIEZO2, PIGR, EVC, MGME1, TMEM70, STIM1, CALR, DPH1, GNPTG, NDUFB3, MT-ATP6, MT-TL1, ALG1, KCNJ5, DNAJB6, F13A1, FLT4, SMAD9, CTCF, SLC29A3, ARL2BP, GMPPB, PEX11B, BRAT1, BMP2, COL4A4, TGDS, CRB2, HSD11B2, GLUL, SMC1A, SCN4B, KL, KANSL1, NPHP3, FOXP1, NAGLU, MUT, ERBB3, COQ9, LRP2, ITPA, CLIC2, TNNI3K, WNK4, SNTA1, FBN2, SNCA, SLC2A10, DHCR24, FOXRED1, AKAP9, BVES, VPS13B, MT-TT, UMOD, AKAP10, MAF, NME8, TXNL4A, GUCY1A3, HRAS, MT-ND3, TCAP, NDUFV1, PEX1, SH2B3, ZNF469, ITIH4, C21orf59, MTFMT, NDUFS1, ACTG1, NR3C1, ASXL1, RMND1, B3GAT3, XYLT1, MRPS22, HYLS1, GATA6, KMT2D, DTNBP1, LTBP3, STAT1, IFT43, CD46, CCDC103, CACNA1C, TFR2, CHD7, KCNJ8, CLUAP1, COL6A3, EFEMP2, RBM20, MED12, NDUFB9, NIPBL, ACTN4, WDR60, OFD1, PCSK9, SCN3B, NDUFS6, AGA, SDHAF1, CTLA4, KIF1BP, PEX16, STRA6, MGP, EPOR, SMAD3, SLC25A20, ADAM17, EXT2, CFC1, C10orf2, SYNE2, TRDN, MTOR, DCAF17, DCHS1, DDX59, F2, SYNE1, PKD1, KCNJ10, DCAF8, MED13L, SALL1, IFIH1, AKT3, BRCA2, CYP27A1, CENPF, HEXB, MUC1, CYP11B2, CAV1, ATP6V1B2, XPNPEP3, PMM2, TAF6, MTHFR, PPP1R3A, DNAH5, RECQL4, APOB, CTC1, SOS1, NEB, MANBA, CITED2, PRG4, SALL4, CDKN1C, BCOR, PNPLA2, GATAD1, RPL15, COL1A1, FANCM, COX8A, PIK3CA, PTPN11, LTBP4, SPAG1, DNAI1, HADHA, MTO1, CNBP, PRKAG2, COL2A1, RBPJ, LDB3, RARB, ACTA1, ACTB, RIN2, SMARCA4, CBL, ELN, NDUFAF6, LZTR1, KCNH1, ARMC4, SERPINA6, PSMB8, IGF2, DSC2, PIGT, NOS3, CECR1, BICC1, PTF1A, NR1I3, SFTPB, ACVRL1, SDHC, MT-TK, NTRK1, RAI1, KCND3, ABCA1, PLOD1, PROC, PLOD3, NDUFAF4, GAA, LMNA, POGZ, ACAD9, CACNB2, TAF2, RPS17, GLIS3, DSE, NDUFS2, SGO1, MYH6, FKBP14, TMEM173, SPRY2, TSHR, MEGF8, RBP4, NKX2-1, COX14, RPS6KA3, STAMBP, TBX1, RPL26, LAMP2, PAM16, PIK3R2, SCN2B, ICR1, XK, COA6, SGSH, YARS2, MUC5B, HSD17B10, AGTR1, SDHD, SLC22A5, G6PC3, MKKS, PIGO, TSFM, TGFB1, VHL, FANCD2, COL4A1, ARL6, SMARCAL1, LTBP2, PPOX, HIBCH, FN1, FZD6, FHL1, FOXC2, KLF1, NODAL, KIAA0586, KCTD1, FBN1, MT-ND1, HCCS, DSG1, RAD51C, TTN, RPS19, H19, ATIC, JPH2, FGFR3, PIGA, SMN1, POLG2, THBD, CFTR, RYR2, CHRND, PLG, EHMT1, GDF2, HIKESHI, GBE1, SERPINC1, CCNO, KCNQ1, SMARCB1, KCNJ2, BAAT, NOS2, MT-ND4, WNT3, SDHA, CENPE, IGHMBP2, HADH, ATP7A, COA5, ABCG5, TP63, NEK1, TMEM127, KCNE2, ABCG8, FADD, DIS3L2, RBCK1, BMPR2, GBA, SARS2, MYPN, THOC6, TLL1, CACNA1S, STRADA, CLASP1, LIMS2, RIT1, MT-ND4L, MFAP5, FASTKD2, POLG, ACTN2, ADNP, CEP19, BSCL2, AGPAT2, HTRA1, NDUFB11, KCNJ18, CCDC114, MPLKIP, AAAS, MT-CO1, TRIM37, FLNB, ARSB, ECE1, KCNA5, FUCA1, TRNT1, MMP21, PIGV, POLR1A, CAV3, DDC, DNAJC19, FMO3, CHRNG, ANKS6, NDUFA11, TAPT1, NT5E, GATA5, EBP, SETBP1, TBX3, RNASEH1, KCNE3, PPARG, SCO1, COL5A1, MCIDAS, PRKAR1A, PHYH, ELAC2, DPP6, COX10, PAX8, CFAP53, KIAA0196, COX6B1, RAB3GAP2, PEX3, NF1, SGCB, PEX7, SCO2, NEU1, COQ7, COX20, MYL3, BBS2, WNT4, RSPH1, XYLT2, WFS1, VIPAS39, CPT1A, EMD, UMPS, CCDC174, MT-ND2, TRPA1, RAF1, PTCH1, SERPIND1, DVL3, APOA2, MEOX1, FBLN5, RBM8A, FCGR2B, CCDC170, NKX2-5, MTTP, DNAAF3, NOTCH2, ATP1B1, IFT172, CHKB, CPOX, LMNB1, PTGIS, COL6A1, DNAL1, TPM3, EPHX1, MID1, SDHB, EVC2, LZTFL1, XRCC4, GYG1, CTNNA3, DDX11, AARS2, MRPL44, GLA, PYCR1, MT-TD, CSRP3, PDE3A, ZIC3, FMR1, FANCC, TGFBR1, PSEN2, EPHX2, RSPH4A, MAX, GHR, CKAP2L, POMT2, SLC19A2, NOTCH3, NFIX, ACADVL, ZMYND10, ADCY5, NFU1, LRP6, NDUFS7, CEP83, PLIN1, SFTPA1, EDN1, TTR, RET, REN, CFHR3, SOX9, USP9X, KYNU, RGS5, KCNQ1OT1, MECP2, ATPAF2, TGFB3, TGFB2, IGFBP7, FOXF1, DMD, KIF1B, NUP155, SGCD, C3, LAMA4, EIF2AK4, KRAS, HADHB, SLC25A26, MRPL3, BRCA1, DDX58, CFI, LDLR, GYS1, SEC63, PIEZO1, SLC25A4, TMEM126A, MAP2K2, CRELD1, POMT1, AKT1, MT-TS1, SLC37A4, SELE, PIGN, B3GALT6, BRAF, CHRM3, PLN, HGSNAT, SKIV2L, GPX4, ACE, NME1, FLNA, INVS, RAB23, COQ2, TRPM4, PEX2, MYOZ2, DHCR7, PTRF, WRN, SCN5A, AHCY, GLB1, NSD1, CALR3, FCGR2A, PRKACA, FXN, STAP1, LMBR1, MYLK2, SCN9A, NDUFV2, CEP57, ALX3, FGFR2, PACS1, AGXT, LIFR, RPL11, NEXN, PDGFRA, RTEL1, MT-ND5, TACO1, ATP5A1, FLNC, PEX19, GALNT14, PNP, PRKCSH, DOLK, CYP3A5, RNF125, CFHR1, MYH11, PHGDH, NDUFS3, ANK2, FTO, HPS1, CACNA1D, PKP2