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PedAM

Pediatric Disease Annotations & Medicines




Disease ataxia
Phenotype C0751265|learning disability
Sentences 1
PubMedID- 19592282 Semi-dominant x-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel mecp2 variant p.v122a: akin to the new mecp2 duplication syndrome.

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