ABNORMALITY OF THE CARDIOVASCULAR SYSTEM, HP:0001626

Associated diseases: {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, HYPOTRICHOSIS 6, ATROPHODERMA VERMICULATUM, VERHEIJ SYNDROME, FACTOR V DEFICIENCY, CARDIAC CONDUCTION DEFECT, NONSPECIFIC, BRUGADA SYNDROME 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, TYROSINEMIA, TYPE I, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, SECKEL SYNDROME 2, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, KAHRIZI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, ANALBUMINEMIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CILIARY DYSKINESIA, PRIMARY, 30, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LONG QT SYNDROME 12, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, NOONAN SYNDROME 5, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, RETINITIS PIGMENTOSA 44, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CARASIL SYNDROME, CAROTID INTIMAL MEDIAL THICKNESS 1, OPITZ GBBB SYNDROME, TYPE II, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DANON DISEASE, LYMPHANGIOLEIOMYOMATOSIS, LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, SICKLE CELL ANEMIA, THROMBOCYTOPENIA 5, PORENCEPHALY 1, 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, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, VELOCARDIOFACIAL SYNDROME, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CARDIOMYOPATHY, DILATED, 1E, CARDIOFACIOCUTANEOUS SYNDROME 4, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY, WARSAW BREAKAGE SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, GAUCHER DISEASE, TYPE IIIC, COFFIN-LOWRY SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, ATRIAL FIBRILLATION, FAMILIAL, 3, BRUGADA SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, BOHRING-OPITZ SYNDROME, PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, MICROPHTHALMIA, SYNDROMIC 2, HEMOPHILIA A, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, LIPOYLTRANSFERASE 1 DEFICIENCY, ATRIAL FIBRILLATION, FAMILIAL, 14, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS II, ?MARDEN-WALKER SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 25, C2 DEFICIENCY, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, SINGLETON-MERTEN SYNDROME 1, LOEYS-DIETZ SYNDROME 3, {BUDD-CHIARI SYNDROME}, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ATRANSFERRINEMIA, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CARDIOMYOPATHY, DILATED, 1O, LEBER OPTIC ATROPHY, TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3, RETINITIS PIGMENTOSA 39, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, BRUGADA SYNDROME 6, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, SHORT QT SYNDROME 3, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, COWDEN SYNDROME 6, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FRONTONASAL DYSPLASIA 1, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, HOLT-ORAM SYNDROME, ALPORT SYNDROME, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, IMMUNODEFICIENCY, COMMON VARIABLE, 6, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ALAGILLE SYNDROME 2, LYSYL HYDROXYLASE 3 DEFICIENCY, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, PARAGANGLIOMAS 3, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, {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, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, HERMANSKY-PUDLAK SYNDROME 5, TRIFUNCTIONAL PROTEIN DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, 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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, LIANG DISTAL MYOPATHY, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CARDIOMYOPATHY, HYPERTROPHIC, 15, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, ASPARTYLGLUCOSAMINURIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TARP SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYOPATHY, MYOFIBRILLAR, 4, GLYCOGEN STORAGE DISEASE IC, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, HYPERTROPHIC, 20, VENTRICULAR TACHYCARDIA, IDIOPATHIC, KEUTEL SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, XERODERMA PIGMENTOSUM, VARIANT TYPE, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, CILIARY DYSKINESIA, PRIMARY, 14, ADAMS-OLIVER SYNDROME 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRIMETHYLAMINURIA, TUBEROUS SCLEROSIS-1, SMITH-MAGENIS SYNDROME, RETINITIS PIGMENTOSA-50, RETINITIS PIGMENTOSA, CONCENTRIC, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, 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, MUCOLIPIDOSIS III ALPHA/BETA, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, RETINITIS PIGMENTOSA 20, MUCOPOLYSACCHARIDOSIS IH/S, CARDIOMYOPATHY, HYPERTROPHIC, 8, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, RETINITIS PIGMENTOSA 31, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, KANZAKI DISEASE, SICK SINUS SYNDROME 2, MARSHALL-SMITH SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, HAY-WELLS SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LATERAL MENINGOCELE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MASS SYNDROME, {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, T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC MALFORMATIONS, SPLIT-HAND/FOOT MALFORMATION 1, NOONAN SYNDROME 7, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, CIRRHOSIS, NORTH AMERICAN INDIAN CHILDHOOD TYPE, CITRULLINEMIA, CARDIOMYOPATHY, DILATED, 1Z, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, QUEBEC PLATELET DISORDER, HELSMOORTEL-VAN DER AA SYNDROME, RETINITIS PIGMENTOSA 46, JERVELL AND LANGE-NIELSEN SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), CHOPS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, VIBRATORY URTICARIA, ATRIOVENTRICULAR SEPTAL DEFECT 5, NETHERTON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CARDIOMYOPATHY, DILATED, 1W, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, GAUCHER DISEASE, PERINATAL LETHAL, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SHWACHMAN-DIAMOND SYNDROME, HYPERCHOLESTEROLEMIA, FAMILIAL, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 25, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, FACTOR XIIIB DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CHAR SYNDROME, D-2-HYDROXYGLUTARIC ACIDURIA, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, VACTERL ASSOCIATION, X-LINKED, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEUROFIBROMATOSIS-NOONAN SYNDROME, BRUGADA SYNDROME 2, FACTOR VII DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, ARTERIAL TORTUOSITY SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 9, LEOPARD SYNDROME 3, ATRIAL SEPTAL DEFECT 6, DUCHENNE MUSCULAR DYSTROPHY, HYPOPHOSPHATASIA, INFANTILE, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, STORMORKEN SYNDROME, ATRIAL SEPTAL DEFECT 8, RENAL ADYSPLASIA, KABUKI SYNDROME 2, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4, MYXOMA, INTRACARDIAC, HYPOPLASTIC OR APLASTIC TIBIA WITH POLYDACTYLY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, CARDIOMYOPATHY, DILATED, 1J, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, WOODHOUSE-SAKATI SYNDROME, ?CARDIOMYOPATHY, HYPERTROPHIC, 19, SHPRINTZEN-GOLDBERG SYNDROME, HEMOCHROMATOSIS, TYPE 2A, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, RETINITIS PIGMENTOSA 18, GM1-GANGLIOSIDOSIS, TYPE I, 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, ATRIAL FIBRILLATION, FAMILIAL, 10 PAROXYSMAL FAMILIAL VENTRICULAR FIBRILLATION, 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, FILIPPI SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 12, CARDIOFACIOCUTANEOUS SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, {ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2}, SOTOS SYNDROME 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, BARTH SYNDROME, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, WRINKLY SKIN SYNDROME, DENYS-DRASH SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 17, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MARTSOLF SYNDROME, CATEL-MANZKE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, CARPENTER SYNDROME 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, GELEOPHYSIC DYSPLASIA 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MALFORMATION OF THE HEART, MALOUF SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, CARDIOMYOPATHY, DILATED, 1JJ, VAN DEN ENDE-GUPTA SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CEREBRAL AMYLOID ANGIOPATHY, PEELING SKIN SYNDROME 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ATRIAL FIBRILLATION, FAMILIAL, 7, ADAMS-OLIVER SYNDROME 5, NEPHRONOPHTHISIS 1, JUVENILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, NOONAN SYNDROME 8, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, PROLIDASE DEFICIENCY, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CEREBROTENDINOUS XANTHOMATOSIS, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, FRUCTOSE INTOLERANCE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?CARDIOMYOPATHY, DILATED, 1T, CARDIOFACIOCUTANEOUS SYNDROME 2, ?OSTEOGENESIS IMPERFECTA, TYPE XII, MECKEL SYNDROME 1, PARAGANGLIOMAS 4, KINDLER SYNDROME, LEOPARD SYNDROME 2, NOONAN SYNDROME 10, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, RETINITIS PIGMENTOSA 57, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ?XFE PROGEROID SYNDROME, D-2-HYDROXYGLUTARIC ACIDURIA 2, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, IMMUNODEFICIENCY 23, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 13, OSTEOGENESIS IMPERFECTA, TYPE VII, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ELLIS-VAN CREVELD SYNDROME, DOOR SYNDROME, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEU-LAXOVA SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, APPARENT MINERALOCORTICOID EXCESS, CORNELIA DE LANGE SYNDROME 2, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, ?GLYCOGEN STORAGE DISEASE XV, PSORIASIS 14, PUSTULAR, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 6, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, MELEDA DISEASE, CARDIOMYOPATHY, HYPERTROPHIC, 11, BRUGADA SYNDROME 8, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, POLYCYSTIC LIVER DISEASE, COMPLEMENT FACTOR I DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SIALIC ACID STORAGE DISORDER, INFANTILE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CARDIOMYOPATHY, HYPERTROPHIC, 16, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CILIARY DYSKINESIA, PRIMARY, 26, CARDIOMYOPATHY, DILATED, 1LL, LEFT VENTRICULAR NONCOMPACTION 8, HELLP SYNDROME, MATERNAL, OF PREGNANCY, LCHAD DEFICIENCY, FATTY LIVER, ACUTE, OF PREGNANCY, HYPERLIPOPROTEINEMIA, TYPE 1D, MYOPATHY, MYOFIBRILLAR, 3, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME 4, PULMONARY HYPERTENSION, PRIMARY, 4, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, {VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, 3MC SYNDROME 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, GREENBERG SKELETAL DYSPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, PALLISTER-HALL SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?RETINITIS PIGMENTOSA 51, ?HYDROXYKYNURENINURIA, BRUGADA SYNDROME 3, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, CARDIOMYOPATHY, DILATED, 1EE, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, CILIARY DYSKINESIA, PRIMARY, 17, MOYAMOYA DISEASE 5, FACTOR XIIIA DEFICIENCY, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, RETINITIS PIGMENTOSA 43, CARDIOMYOPATHY, HYPERTROPHIC, 18, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ATRIAL FIBRILLATION, FAMILIAL, 6, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, XERODERMA PIGMENTOSUM, GROUP D, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, ?GLYCOPROTEIN IA DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 2, PULMONARY VENOOCCLUSIVE DISEASE 2, HERMANSKY-PUDLAK SYNDROME 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, VENTRICULAR SEPTAL DEFECT 3, PULMONARY HYPERTENSION, PRIMARY, 2, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, ANDERSEN SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, TEMTAMY SYNDROME, ?THROMBOXANE SYNTHASE DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, PERLMAN SYNDROME, CILIARY DYSKINESIA, PRIMARY, 22, DIAMOND-BLACKFAN ANEMIA 5, EHLERS-DANLOS SYNDROME, TYPE 3, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, LONG QT SYNDROME 13, CARDIOMYOPATHY, HYPERTROPHIC, 10, SHORT QT SYNDROME 2, COCKAYNE SYNDROME, TYPE B, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, CHILD SYNDROME, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FECHTNER SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MORBID OBESITY AND SPERMATOGENIC FAILURE, SC PHOCOMELIA SYNDROME, NOONAN SYNDROME 6, CARDIOMYOPATHY, DILATED, 1CC, SILVER-RUSSELL SYNDROME, LEBER CONGENITAL AMAUROSIS 9, CARDIOMYOPATHY, DILATED, 1G, TREACHER COLLINS SYNDROME 1, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 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, CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, FUCOSIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP I, NEPHRONOPHTHISIS 2, INFANTILE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, COCKAYNE SYNDROME, TYPE A, SHORT QT SYNDROME 1, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, 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, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 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, OSTEOGENESIS IMPERFECTA, TYPE III, NIEMANN-PICK DISEASE TYPE C1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OPITZ GBBB SYNDROME, TYPE I, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, LIDDLE SYNDROME, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, 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, RETINITIS PIGMENTOSA 26, DIAMOND-BLACKFAN ANEMIA 6, PHELAN-MCDERMID SYNDROME, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, AGNATHIA-OTOCEPHALY COMPLEX, YUNIS-VARON SYNDROME, FILS SYNDROME, FLOATING-HARBOR SYNDROME, SICK SINUS SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, CALCIFICATION OF JOINTS AND ARTERIES, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, 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}, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, HYPERLIPOPROTEINEMIA, TYPE IB, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, BETHLEM MYOPATHY 1, ?DIAMOND-BLACKFAN ANEMIA 11, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 3, 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, {ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO}, MICROPHTHALMIA WITH LIMB ANOMALIES, CARDIOMYOPATHY, HYPERTROPHIC, 4, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, KARTAGENER SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME 1, CRANIOECTODERMAL DYSPLASIA 1, POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, BURN-MCKEOWN SYNDROME, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, WISKOTT-ALDRICH SYNDROME, ATRIAL SEPTAL DEFECT 5, MULTIPLE ENDOCRINE NEOPLASIA IIA, COHEN SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, MOYAMOYA 6 WITH ACHALASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, LONG QT SYNDROME 9, LEFT VENTRICULAR NONCOMPACTION 7, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, ETHYLMALONIC ENCEPHALOPATHY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, RETINITIS PIGMENTOSA 25, COENZYME Q10 DEFICIENCY, PRIMARY, 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, GAUCHER DISEASE, TYPE III, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CILIARY DYSKINESIA, PRIMARY, 10, JOUBERT SYNDROME 14, VICI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, HEMOPHILIA B, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, PEUTZ-JEGHERS SYNDROME, MYOTONIC DYSTROPHY 2, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ODONTOONYCHODERMAL DYSPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, LEBER CONGENITAL AMAUROSIS 6, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, DILATED, 1X, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CONOTRUNCAL HEART MALFORMATIONS, VARIABLE, CONOTRUNCAL HEART MALFORMATIONS, PERSISTENT TRUNCUS ARTERIOSUS, DOUBLE-OUTLET RIGHT VENTRICLE, CONOTRUNCAL ANOMALY FACE SYNDROME, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SENGERS SYNDROME, MYOPATHY, MYOFIBRILLAR, 6, DE SANCTIS-CACCHIONE SYNDROME, HYPERCALCEMIA, INFANTILE, 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, CARDIOMYOPATHY, HYPERTROPHIC, 14, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MAY-HEGGLIN ANOMALY, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, VENTRICULAR SEPTAL DEFECT 2, DIAMOND-BLACKFAN ANEMIA 1, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, CHOANAL ATRESIA AND LYMPHEDEMA, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MYOPATHY, MYOFIBRILLAR, 2, BARTTER SYNDROME, TYPE 3, BRUGADA SYNDROME 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, COWDEN SYNDROME 5, HYPEROXALURIA, PRIMARY, TYPE 1, PORENCEPHALY 2, {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, ATRIAL SEPTAL DEFECT 4, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, BRITTLE CORNEA SYNDROME 1, ERYTHROCYTOSIS, FAMILIAL, 2, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, ?LONG QT SYNDROME-11, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?SNEDDON SYNDROME, RETINITIS PIGMENTOSA 54, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PSEUDOHYPOALDOSTERONISM, TYPE IIE, 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, FARBER LIPOGRANULOMATOSIS, LONG QT SYNDROME 1, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, CARDIOMYOPATHY, DILATED, 1I, APERT SYNDROME, EXUDATIVE VITREORETINOPATHY 2, X-LINKED, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, C4A DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CILIARY DYSKINESIA, PRIMARY, 23, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RETINITIS PIGMENTOSA 71, LUJAN-FRYNS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IO, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, BRACHYDACTYLY, TYPE B1, CILIARY DYSKINESIA, PRIMARY, 19, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, CILIARY DYSKINESIA, PRIMARY, 28, WOLFF-PARKINSON-WHITE SYNDROME, STAR SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, HETEROTAXY, VISCERAL, 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, CRANIOLENTICULOSUTURAL DYSPLASIA, MANNOSIDOSIS, BETA, ALSTROM SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, ADAMS-OLIVER SYNDROME 6, DIGEORGE SYNDROME, HETEROTAXY, VISCERAL, 4, AUTOSOMAL, ?CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY, CARDIOMYOPATHY, DILATED, 1FF, ATRIAL FIBRILLATION, FAMILIAL, 11, COACH SYNDROME, RETINITIS PIGMENTOSA 30, BLOOM SYNDROME, GLUCOCORTICOID RESISTANCE, ATRIAL FIBRILLATION, FAMILIAL, 4, MUCOLIPIDOSIS III GAMMA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, FANCONI ANEMIA, COMPLEMENTATION GROUP N, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, GLUTARIC ACIDURIA III, AGAMMAGLOBULINEMIA, X-LINKED 1, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, MITRAL VALVE PROLAPSE 2, CYCLIC VOMITING SYNDROME; CVS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, CARDIOMYOPATHY, DILATED, 1GG, COENZYME Q10 DEFICIENCY, PRIMARY, 7, PETERS-PLUS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, ?CARDIOMYOPATHY, DILATED, 1M, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, 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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, GELEOPHYSIC DYSPLASIA 2, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, NOONAN SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, RETINITIS PIGMENTOSA 58, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, ATRIAL FIBRILLATION, FAMILIAL, 13, ATRIAL FIBRILLATION, FAMILIAL, 12, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, CEREBRAL CAVERNOUS MALFORMATIONS-2, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RIGHT ATRIAL ISOMERISM, PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, BOSLEY-SALIH-ALORAINY SYNDROME, ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, ATRIAL SEPTAL DEFECT 3, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, PSEUDOHYPOALDOSTERONISM, TYPE IID, ALKAPTONURIA, ROTHMUND-THOMSON SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, CARDIOMYOPATHY, HYPERTROPHIC, 13, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, NEPHRONOPHTHISIS 16, CILIARY DYSKINESIA, PRIMARY, 15, GLYCOGEN STORAGE DISEASE IA, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, KLIPPEL-FEIL SYNDROME 2, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HERMANSKY-PUDLAK SYNDROME 8, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, 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, UV-SENSITIVE SYNDROME 1, TENORIO SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, GLYCOGEN STORAGE DISEASE 0, MUSCLE, VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, BARTTER SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, CARNEY COMPLEX VARIANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HAILEY-HAILEY DISEASE, CARDIOMYOPATHY, DILATED, 1BB, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, GAPO SYNDROME, ISOVALERIC ACIDEMIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, CENTRONUCLEAR MYOPATHY 5, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, HYPERTENSION AND BRACHYDACTYLY SYNDROME, RETINITIS PIGMENTOSA 36, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DENTAL ANOMALIES AND SHORT STATURE, RETINITIS PIGMENTOSA 61, CEREBRAL CAVERNOUS MALFORMATIONS 3, COFFIN-SIRIS SYNDROME 1, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, BARDET-BIEDL SYNDROME 8, RESTRICTIVE DERMOPATHY, LETHAL, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, CRANIOECTODERMAL DYSPLASIA 3, GENITOPATELLAR SYNDROME, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPOPLASTIC LEFT HEART SYNDROME 1, CARDIOMYOPATHY, DILATED, 1P, VLCAD DEFICIENCY, LATHOSTEROLOSIS, OPTIC ATROPHY 7, CUTIS LAXA, AUTOSOMAL DOMINANT 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, 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, EHLERS-DANLOS SYNDROME, TYPE IV, SPINAL MUSCULAR ATROPHY-1, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, RENPENNING SYNDROME, CILIARY DYSKINESIA, PRIMARY, 18, CPT II DEFICIENCY, LETHAL NEONATAL, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, NOONAN SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 11, RETINITIS PIGMENTOSA 33, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA, PEELING SKIN SYNDROME 1, RETINITIS PIGMENTOSA 19, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CARDIOMYOPATHY, DILATED, 1II, 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, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ATRIAL FIBRILLATION, FAMILIAL, 10, CILIARY DYSKINESIA, PRIMARY, 16, COENZYME Q10 DEFICIENCY, PRIMARY, 2, LONG QT SYNDROME-3, GM1-GANGLIOSIDOSIS, TYPE III, C SYNDROME, GRAY PLATELET SYNDROME, JOUBERT SYNDROME 18, ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, UV-SENSITIVE SYNDROME 3, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, ?MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MAST CELL DISEASE, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, CARDIOMYOPATHY, DILATED, 1L, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BEAULIEU-BOYCOTT-INNES SYNDROME, 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, LOEYS-DIETZ SYNDROME 1, 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, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: CALM1, TSC2, RPL5, FECH, GNAI2, HBB, FGFR1, PROS1, TCTN3, LMNA, ACADS, VCL, CC2D2A, LBR, CUL3, CIITA, GLI3, TBXA2R, PTPN22, C2orf71, PUF60, DPM1, SFTPA2, KRIT1, RBBP8, TP63, ARSB, TSPYL1, ETHE1, BBS5, SOX2, TTC7A, SLC26A2, GGCX, BCOR, NSDHL, KCNH2, PKD1, KDM6A, POLE, SLC19A1, B2M, SLC17A5, PTPN14, ENG, KIF7, KIF1B, ESCO2, TERT, ERCC6, TBC1D24, DTNA, RGR, AGK, MT-TH, G6PC, GYG1, WNK1, KCNE3, PRKCH, DNAAF5, GFI1B, TGFBR2, DNAI2, PIGM, HGD, LIPT1, MAFB, CLRN1, SPECC1L, PTEN, SNIP1, EVC, KCNE1, MYOT, RASA1, IFIH1, ALMS1, MYOC, APOA1, NDUFAF3, HAMP, COL6A2, DDX11, NDUFA1, IDS, GNAS, GSN, SHMT1, CCDC114, CCDC151, HCN4, SYNE1, THBD, NOS3, MGAT2, COL3A1, CITED2, AMER1, MYLK, MEGF8, MRE11A, DSP, SMARCE1, KCNJ1, MT-TD, JAK2, FBN2, GPC6, NRXN1, SHANK3, AAAS, VPS33B, MIB1, CYP11B2, MKKS, PNP, TOPORS, HYDIN, SERPINF2, MASTL, EFTUD2, ABCD4, PRKACG, ALDH18A1, RYR1, TNNT2, CYP21A2, AVPR2, XPNPEP3, C12orf57, KMT2A, ATP5E, DYX1C1, NDUFS7, DNAAF1, MT-CO1, GATA1, CAV3, BANF1, CCDC22, FANCE, AGL, HFE2, MT-TE, CHST3, SUFU, SMAD4, BCS1L, NOS1AP, CHST14, TMCO1, GDNF, CEP290, NDUFAF2, FOXC1, CRTAP, GPIHBP1, FAT4, CFB, CHRNA1, PQBP1, PRPF3, GP6, CASQ2, HES7, DBH, GDF1, BBS7, AKT1, TPI1, AIP, ICR1, DNAH14, ADAMTS10, ALX3, HFE, SH3PXD2B, EYS, POMT2, TWIST1, LOXL1, ERCC8, IRF5, DNAH1, SLC29A3, PDE6G, HOXA11, PEX5, TSFM, XRCC4, XPC, CRYAB, NAA10, ZEB2, SGCG, HOXA1, ADK, BBS9, IFT122, HMBS, PIGA, ZFPM2, DHCR24, TGM5, MASP1, GJA5, ZNF423, SLC12A1, SEPN1, HABP2, NPHP1, SEC23A, PIGL, PTPN11, LPL, SOS2, CCDC39, SERPINA6, PIEZO2, HADHB, LIPI, P2RY12, NLRP5, D2HGDH, HLA-B, COL5A2, SMOC1, ENPP1, PCCA, FMR1, DNAAF2, EDN3, FKTN, BBS1, FANCI, FKRP, SNRNP200, GATA4, SLC25A3, RAB40AL, SLC26A3, CLCNKB, SNRPB, PRSS23, TAB2, CALR, RNF113A, CTCF, MLYCD, ACVRL1, TFAP2B, LIPA, ATP7A, TMEM43, TF, TCAP, CSRP3, PNPLA2, P2RX1, MT-ND6, COL11A1, TSC1, APOA5, ARHGAP31, MT-TS2, DMPK, SKI, CCBE1, UGT1A1, IL36RN, ARMC5, GNPTAB, RPS26, TREX1, IRX5, RPGRIP1, LRRC6, ALOX5AP, CPT2, MAP2K1, MT-CO2, F5, BBS12, SEMA3E, PIK3CA, RAI1, ELOVL4, CAPN5, KLHL3, B3GLCT, TMEM237, TNXB, PDSS1, PTDSS1, MRPL44, TTC8, ECHS1, ITGA2B, REN, G6PC3, FGA, LTBP4, MYH7, WNT10A, HADH, GDF2, CD244, TNNC1, COL4A5, IKBKAP, NDUFB11, ANKRD26, SFTPA1, TRNT1, EOGT, DES, MT-CO3, PKHD1, TPK1, GALNS, KIAA0586, CYP11B1, DNAI1, LIAS, TERC, DLD, DLL4, PET100, ADGRE2, ZNF408, CD81, RYR2, SF3B4, SCN1B, FIG4, IVD, SHOC2, TGFB2, ACTC1, DSG2, ALDOB, MAP2K2, PTGIS, NPPA, CREBBP, XPA, SP7, PRDM16, FAM58A, RGS5, NOTCH1, NEXN, PTRF, COL4A3, CYP3A5, CBS, WAS, HLA-DRB1, EDNRA, CCDC40, CST3, NR2F2, UBR1, FZD4, SP110, GTPBP3, XYLT2, KMT2C, C2, PSEN1, THSD1, ABCC9, MYOM1, RBM10, SC5D, JUP, LRP5, NRAS, LIPC, KAT6B, ZMPSTE24, SOX9, PADI4, PRKG1, COL5A1, CCDC28B, WDPCP, ACTA2, ACTB, RB1, FGF23, VIPAS39, BOLA3, BDNF, UTP4, EPG5, FANCD2, ADD1, KCNK3, KAT6A, NDUFS3, PIGR, TMPO, MGME1, KCNJ5, STIM1, SMAD6, ALPL, GNPTG, NDUFB3, FOLR1, DNAH8, TTC37, MT-TL1, ALG1, COL4A4, DNAJB6, FLT4, SMAD9, XK, MYBPC3, ARL2BP, GMPPB, GRIP1, TAZ, NDUFS4, BRAT1, TGDS, TMEM70, KL, BMP2, CRB2, HSD11B2, GLUL, GP1BA, SMC1A, SCN4B, GJB4, KANSL1, NPHP3, ASCL1, NAGLU, MUT, ERBB3, FRAS1, TBX20, EGFR, SOX18, LRP2, TAF2, ELN, CLIC2, DYRK1B, KRT10, WNK4, LAMA4, SNCA, ATOH7, NIPBL, SLC2A10, LDLRAP1, ADNP, SLC20A2, FOXRED1, AKAP9, NF1, VPS13B, FREM2, COQ4, KCNH1, MAF, ANTXR1, TXNL4A, GUCY1A3, KIT, XPNPEP2, MYH6, COX7B, NDUFV1, OTC, PEX1, SH2B3, F9, ZNF469, C21orf59, MTFMT, MKS1, KRT8, TNNI3K, ALB, ASXL1, GNS, RMND1, B3GAT3, TGFB1, MRPS22, HYLS1, CYP1B1, KMT2D, DTNBP1, MTR, SPEG, LTBP3, IFT43, PEX7, F8, CACNA1C, SUGCT, TFR2, RECQL4, KCNJ8, SMN1, COL6A3, RBM20, MYL2, COQ9, NDUFB9, FCGR2B, MECP2, WDR60, KCTD1, FSCN2, FERMT1, DST, OFD1, PCNA, NDUFS6, BLOC1S3, AGA, SDHAF1, CTLA4, FLNB, PEX16, TMEM67, STRA6, FERMT3, APOPT1, MGP, EPOR, SMAD3, SLC25A20, ADAM17, FCGR2A, TNNI3, HPGD, C10orf2, F10, SYNE2, TRDN, GPD1L, DCAF17, DCHS1, C3AR1, CRELD1, F2, ASAH1, CEP120, DCAF8, MED13L, SALL1, RAD21, SDHC, ATRX, AKT3, FAS, CYP27A1, IKBKG, HEXB, MUC1, RSPH3, SGCD, ATP6V1B2, AGT, PMM2, MT-TK, MTHFR, NOTCH3, PPP1R3A, MT-TS1, BEST1, DNAH5, RPGRIP1L, APOB, CTC1, SOS1, NEB, MANBA, RARB, STK11, IL10, SDHA, PRG4, SALL4, SLC37A4, SETX, FBP1, RPL15, FANCM, IDH2, BBS2, COX8A, CACNA1B, NPC1, ABCA4, PDE6A, SPAG1, PDCD10, JAG1, TEK, ABCA1, SBDS, LZTFL1, ACAD8, PRKAG2, COL2A1, B3GALT6, NUBPL, ACTA1, TCOF1, ANKS6, RIN2, PLEC, RUNX1, CBL, SCNN1G, NDUFAF6, LZTR1, AKAP10, ARMC4, AIPL1, PSMB8, IGF2, DSC2, KCNJ18, CLUAP1, FMO3, CECR1, XYLT1, PTF1A, NR1I3, FANCC, SFTPB, CCM2, CHRM3, SCNN1A, THPO, HEXA, SCARF2, COL1A2, ITGA2, KRT1, KCND3, HADHA, PLOD1, DGUOK, PROC, PLOD3, NDUFAF4, HGSNAT, SLURP1, GNAQ, DSG4, ACAD9, CACNB2, GMPPA, HPS1, TALDO1, SERPING1, DSE, NDUFS2, C3, MT-ND3, FKBP14, ADAMTS2, PIGC, TSHR, IFNG, RBP4, GP9, NKX2-1, COX14, RPS6KA3, RNASEH1, STAMBP, USH2A, TBX1, ARID1B, RPL26, LAMP2, PAM16, PIK3R2, SCN2B, PCCB, KCNA5, FASLG, CALM2, SGSH, UBN1, PPARG, SMPD1, CD96, HSD17B10, PDE11A, SDHD, SLC22A5, SGO1, PRRX1, TJP2, SNTA1, WT1, VHL, BBS4, GATAD1, SMARCAL1, LTBP2, ROR2, TBX5, HIBCH, TPM1, RPE65, FZD6, TMEM173, FHL1, BRCA1, FOXC2, GJB3, KLF1, NODAL, BMPR1A, MT-CYB, ATP5A1, CD46, MT-ND1, TRPM4, NOS2, POLD1, ELAC2, RAD51C, TTN, RPS19, H19, ATIC, JPH2, F13A1, POLG2, CFH, CFTR, COX10, CHRND, PLG, PRCD, CFC1, EHMT1, ATPAF2, FAH, FADD, F12, GBE1, SERPINC1, PGM1, CCNO, IDH3B, KCNQ1, FBXL4, HDAC8, BAAT, PRICKLE2, DHCR7, SLC22A4, MT-ND4, GALNT3, DOCK8, PRKCSH, MED25, IGHMBP2, DNASE1, MYH9, TAF6, COA5, NTRK1, ERCC4, UPK3A, ADAMTSL2, NEK1, TMEM127, NFKBIL1, RPL35A, APOC2, KCNE2, ABCG8, PCNT, DIS3L2, RBCK1, BMPR2, DNMT3A, GBA, SARS2, MYPN, THOC6, GATA6, TLL1, CACNA1S, STRADA, HPS5, CLASP1, APP, FOXP1, RIT1, MT-ND4L, HRAS, ETV6, FASTKD2, POLG, MTAP, ACTN2, NDUFAF5, CEP19, BSCL2, OCLN, HTRA1, BAG3, MPLKIP, ITGB3, POLH, TRIM37, CYP17A1, KIF1BP, F13B, ECE1, SRCAP, ISCU, FUCA1, NEK8, CAV1, POLR1A, BBIP1, COA6, COL1A1, DNAJC19, CNBP, CHRNG, CCDC103, SRD5A3, NDUFA11, PIGT, DNM2, GATA5, ACP5, CD2AP, SETBP1, TBX3, ALG10, COX20, NDUFS1, MUC5B, SCO1, ACVR2B, PALB2, MCIDAS, PRKAR1A, PHYH, YARS2, DSG1, CDSN, BTK, GDF6, MYLK2, COX6B1, RAB3GAP2, MYL3, SGCB, FANCA, RAF1, SCO2, NEU1, IDUA, TRIM32, ITGA8, EFEMP2, MEFV, ERCC2, COL4A2, F7, RSPH1, PIGO, WFS1, CPT1A, EMD, UMPS, LONP1, BLM, MT-ND2, ATP6V0A2, USP8, PTCH1, NT5E, ACE, ATM, DVL3, CHD7, MEOX1, FBLN5, NLRP12, RBM8A, MT-TQ, NKX2-5, MT-ATP6, DNAAF3, NOTCH2, PACS1, ATP1B1, AGTR1, SCNN1B, IFT172, GP1BB, CHKB, CPOX, LMNB1, IL6, LRP1, COL6A1, DNAL1, TPM3, EPHX1, MID1, SDHB, EVC2, NR3C1, MTO1, PTCH2, SGCA, CTNNA3, DOCK6, KRT18, AARS2, GNB3, RPL11, ASS1, C4A, KCNMB1, ATP2C1, ZIC3, WNT3, MYH8, TGFBR1, DRC1, PSEN2, AP1S1, MBTPS2, RSPH4A, MAX, NDP, SLC19A2, ARL6, NR3C2, ABCG5, SCN3B, ACADVL, CYP24A1, ZMYND10, ADCY5, NFU1, MFAP5, LRP6, UVSSA, NMNAT1, PAX8, FGFR3, PLIN1, RNU4ATAC, TTR, FLNC, GJA1, CFHR3, SERPIND1, TTC21B, COL4A1, KYNU, VWF, MRPS16, NFIX, DDB2, CFAP53, MEF2A, ZNF513, TGFB3, DDC, IGFBP7, FOXF1, DMD, TUBB, NUP155, DPM3, BBS10, PLAU, LIG3, STK4, EIF2AK4, KRAS, DNAH11, WNT5A, MRPL3, PPOX, DDX58, CFI, SPINK5, MED12, GYS1, SEC63, NME1, PHOX2B, SLC25A4, TMEM126A, ABCC6, CERKL, POMT1, FN1, PDE3A, CDKN1C, SELE, PIGN, LDB3, BRAF, NPC2, PLN, LYZ, GAA, GPX4, GUSB, GPC3, NDUFAF1, FLNA, INVS, RAB23, COQ2, HCCS, DPP6, PEPD, PEX2, MYOZ2, KIAA0196, ZAK, FKBP10, CASP10, WRN, EYA4, SCN5A, AHCY, GLB1, SLC39A13, AFF4, NSD1, CALR3, ANK2, PRKACA, DLX5, FXN, LMBR1, IL10RA, SCN9A, NDUFV2, CEP57, TANGO2, CPS1, CCND1, FGFR2, PLCG2, NBEAL2, AGXT, UMOD, LIFR, GLA, MYCN, PDGFRA, RTEL1, MT-ND5, TACO1, FBN1, RET, KCNQ1OT1, GALNT14, KCNJ2, NKX2-6, TBXAS1, DOLK, PGM3, NAGA, RNF125, CFHR1, CTSA, MYH11, PHGDH, ATR, CKAP2L, PKP2, KDR, MTRR, PORCN, CACNA1D, FTO