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Familial syndrome associated with hypertrophic cardiomyopathy
- ... an identified mutation in any of the known associated genes. The cause of the ... occur as part of syndromes that affect other organs and tissues in the ...
- ... Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs. Am J Med ...
- ... mitochondrial gene and occurs in people with no family history of MERRF. Fukuhara disease MERRF MERRF syndrome Myoclonic epilepsy associated with ragged-red fibers Myoencephalopathy ragged-red fiber ...
- ... the lungs (pulmonary valve stenosis). Some have hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle.A variety of bleeding disorders have been associated with Noonan syndrome. Some affected individuals have excessive bruising, nosebleeds, or ...
- ... keratoderma syndrome Genetic Testing Registry: Naxos disease ... RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, ...
- ... Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most ... syndrome is also characterized by distinctive facial ...
- ... this condition have short stature compared to their family and peers and may ... Costello syndrome include seizures, weak muscle tone (hypotonia), and a ...
- ... variants that occur spontaneously, and there is no family history of this condition. ... National Organization for Rare Disorders (NORD) ...
- ... occur.A potentially life-threatening heart condition called cardiomyopathy is common in children with Vici ... UI;font-size:9pt;}People with Vici ...
- Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many ...