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PedAM

Pediatric Disease Annotations & Medicines




Disease ataxia
Phenotype C0751781|dentatorubral-pallidoluysian atrophy
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PubMedID- 23560305 The growing list ofneurodegenerative and neuromuscular diseases caused by dynamic mutations includes huntington's disease (hd), spinobulbar muscular atrophy (sbma), dentatorubral-pallidoluysian atrophy (drpla), a number of spinocerebellar ataxias (scas), oculopharyngeal muscular dystrophy (opmd), myotonic dystrophy type 1 and 2 (dm1 and 2), huntington's disease-like 2 (hdl-2), friedrich's ataxia (frda), fragile x associated tremor ataxia syndrome (fxtas), fragile xe (fraxe) and fragile xa (fraxa).

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