At a Glance
Atrial fibrillation, familial, 12;
3-Methylglutaconic aciduria type 2;
Acromicric dysplasia
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Atrial fibrillation, familial, 12
3-Methylglutaconic aciduria type 2
Acromicric dysplasia
Adams-Oliver syndrome 5
Alagille syndrome 1
Alpha-B crystallinopathy
Amyloidogenic transthyretin amyloidosis
Andersen Tawil syndrome
Aortic aneurysm, familial thoracic 4
Aortic aneurysm, familial thoracic 6
Aortic aneurysm, familial thoracic 7
Aortic aneurysm, familial thoracic 8
Aortic valve disorder
Arrhythmogenic right ventricular cardiomyopathy, type 10
Arrhythmogenic right ventricular cardiomyopathy, type 11
Arrhythmogenic right ventricular cardiomyopathy, type 12
Arrhythmogenic right ventricular cardiomyopathy, type 5
Arrhythmogenic right ventricular cardiomyopathy, type 8
Arrhythmogenic right ventricular cardiomyopathy, type 9
Arrhythmogenic right ventricular dysplasia, familial 1
Arrhythmogenic right ventricular dysplasia, familial, 2
Arterial tortuosity syndrome
Atrial fibrillation, familial, 10
Atrial fibrillation, familial, 13
Atrial fibrillation, familial, 14
Atrial fibrillation, familial, 3
Atrial fibrillation, familial, 4
Atrial fibrillation, familial, 9
Atrial septal defect 2
Atrial septal defect 3
Atrial septal defect 4
Atrial septal defect 5
Atrial septal defect 7 with or without atrioventricular conduction defects
Atrioventricular septal defect 4
Becker muscular dystrophy
Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Brugada syndrome 1
Brugada syndrome 2
Brugada syndrome 3
Brugada syndrome 4
Brugada syndrome 5
Brugada syndrome 6
Brugada syndrome 7
Brugada syndrome 8
Brugada syndrome 9
Carcinoma of pancreas
Cardiac arrhythmia, ankyrin B-related
Cardiac valvular dysplasia, X-linked
Cardiomyopathy, dilated, 1NN
Cardiomyopathy, dilated, 2b
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
Carpal tunnel syndrome
Cataract 16, multiple types
Catecholaminergic polymorphic ventricular tachycardia type 1
Charcot-Marie-Tooth disease type 2B1
Congenital contractural arachnodactyly
Congenital muscular dystrophy, LMNA-related
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4
Conotruncal heart malformations
Danon disease
Deafness, autosomal dominant 10
DiGeorge sequence
Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1AA
Dilated cardiomyopathy 1BB
Dilated cardiomyopathy 1C
Dilated cardiomyopathy 1CC
Dilated cardiomyopathy 1DD
Dilated cardiomyopathy 1E
Dilated cardiomyopathy 1EE
Dilated cardiomyopathy 1FF
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1HH
Dilated cardiomyopathy 1I
Dilated cardiomyopathy 1II
Dilated cardiomyopathy 1J
Dilated cardiomyopathy 1JJ
Dilated cardiomyopathy 1KK
Dilated cardiomyopathy 1M
Dilated cardiomyopathy 1N
Dilated cardiomyopathy 1O
Dilated cardiomyopathy 1P
Dilated cardiomyopathy 1R
Dilated cardiomyopathy 1S
Dilated cardiomyopathy 1W
Dilated cardiomyopathy 1X
Dilated cardiomyopathy 1Y
Dilated cardiomyopathy 1Z
Dilated cardiomyopathy 2A
Dilated cardiomyopathy 3B
Dilated cardiomyopathy with woolly hair and keratoderma
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Distal myopathy Markesbery-Griggs type
Distal myopathy, Tateyama type
Duchenne muscular dystrophy
Dystransthyretinemic euthyroidal hyperthyroxinemia
Ectopia lentis, isolated, autosomal dominant
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, hydroxylysine-deficient
Ehlers-Danlos syndrome, type 4
Elevated serum creatine phosphokinase
Emery-Dreifuss muscular dystrophy 1, X-linked
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Epidermolysis bullosa, lethal acantholytic
Epileptic encephalopathy, early infantile, 52
FG syndrome
FG syndrome 2
Fabry disease
Familial hyperaldosteronism type 3
Familial hypertrophic cardiomyopathy 1
Familial hypertrophic cardiomyopathy 10
Familial hypertrophic cardiomyopathy 11
Familial hypertrophic cardiomyopathy 12
Familial hypertrophic cardiomyopathy 13
Familial hypertrophic cardiomyopathy 14
Familial hypertrophic cardiomyopathy 15
Familial hypertrophic cardiomyopathy 16
Familial hypertrophic cardiomyopathy 17
Familial hypertrophic cardiomyopathy 18
Familial hypertrophic cardiomyopathy 2
Familial hypertrophic cardiomyopathy 20
Familial hypertrophic cardiomyopathy 3
Familial hypertrophic cardiomyopathy 4
Familial hypertrophic cardiomyopathy 6
Familial hypertrophic cardiomyopathy 7
Familial hypertrophic cardiomyopathy 8
Familial hypertrophic cardiomyopathy 9
Familial partial lipodystrophy 2
Familial restrictive cardiomyopathy 1
Familial restrictive cardiomyopathy 3
Fatal infantile hypertonic myofibrillar myopathy
Friedreich ataxia 1
Frontometaphyseal dysplasia
Fukuyama congenital muscular dystrophy
GLUCOCORTICOID DEFICIENCY 5
Geleophysic dysplasia 2
Generalized epilepsy with febrile seizures plus, type 1
Glycogen storage disease of heart, lethal congenital
Heart-hand syndrome, Slovenian type
Hereditary myopathy with early respiratory failure
Hereditary nonpolyposis colorectal cancer type 6
Holt-Oram syndrome
Homocystinuria due to CBS deficiency
Hutchinson-Gilford syndrome
Hypertrichotic osteochondrodysplasia
Hypoplastic left heart syndrome 2
Hypothyroidism, congenital, nongoitrous, 5
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Jervell and Lange-Nielsen syndrome 1
Jervell and Lange-Nielsen syndrome 2
Juvenile myelomonocytic leukemia
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Keratosis palmoplantaris striata II
LEOPARD syndrome 1
LEOPARD syndrome 2
Left ventricular noncompaction 10
Left ventricular noncompaction 6
Lethal tight skin contracture syndrome
Limb-girdle muscular dystrophy, type 1B
Limb-girdle muscular dystrophy, type 1C
Limb-girdle muscular dystrophy, type 2G
Limb-girdle muscular dystrophy, type 2J
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Loeys-Dietz syndrome 1
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 3
Loeys-Dietz syndrome 5
Long QT syndrome 1
Long QT syndrome 10
Long QT syndrome 11
Long QT syndrome 12
Long QT syndrome 13
Long QT syndrome 14
Long QT syndrome 2
Long QT syndrome 3
Long QT syndrome 5
Long QT syndrome 6
Long QT syndrome 9
MASS syndrome
Macular degeneration, early-onset
Malignant tumor of esophagus
Mandibuloacral dysostosis
Marfan lipodystrophy syndrome
Marfan syndrome
Melnick-Needles syndrome
Metachondromatosis
Moyamoya disease 5
Multiple self healing squamous epithelioma
Multisystemic smooth muscle dysfunction syndrome
Muscular dystrophy, limb-girdle, type 2R
Myhre syndrome
Myofibrillar myopathy 1
Myofibrillar myopathy, BAG3-related
Myofibrillar myopathy, ZASP-related
Myopathy, distal, 1
Myopathy, early-onset, with fatal cardiomyopathy
Myopathy, myosin storage, autosomal recessive
Myosin storage myopathy
Naxos disease
Nemaline myopathy 11, autosomal recessive
Noonan syndrome 1
Noonan syndrome 5
Ohdo syndrome, X-linked
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Paroxysmal familial ventricular fibrillation 1
Periventricular nodular heterotopia 1
Progressive familial heart block type 1A
Progressive familial heart block type 1B
Rippling muscle disease
SUDDEN INFANT DEATH SYNDROME
Scapuloperoneal myopathy, MYH7-related
Scapuloperoneal syndrome, neurogenic, Kaeser type
Short QT syndrome 1
Short QT syndrome 2
Short QT syndrome 3
Shprintzen syndrome
Shprintzen-Goldberg syndrome
Sick sinus syndrome 1, autosomal recessive
Sick sinus syndrome 2, autosomal dominant
Sick sinus syndrome 3, susceptibility to
Skin fragility woolly hair syndrome
Spinocerebellar ataxia 19
Stiff skin syndrome
Terminal osseous dysplasia
Testicular anomalies with or without congenital heart disease
Tetralogy of Fallot
Timothy syndrome
Ventricular septal defect 1
Ventricular septal defect 3
Ventricular tachycardia, catecholaminergic polymorphic, 2
Ventricular tachycardia, catecholaminergic polymorphic, 4
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
Weill-Marchesani syndrome 2
Wolff-Parkinson-White pattern
X-linked mental retardation with marfanoid habitus syndrome
ABCC9 (12p12.1);
ACTA2 (10q23.31);
ACTC1 (15q14);
ACTN2 (1q43);
AKAP9 (7q21.2)
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Total conditions: 238
Condition/Phenotype
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Methodology
Total methods: 0
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