Charcot-Marie-Tooth disease type 2DD (DOID:0111558)
Alliance: disease page
Synonyms: ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2; ATP1A1-related CMT2; Charcot-Marie-Tooth disease, axonal, type 2DD; Charcot-Marie-Tooth neuropathy, type 2DD; CMT2DD
Alt IDs: OMIM:618036, ORDO:521414
Definition: A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.