Charcot-Marie-Tooth disease type 1G (DOID:0111560)
Alliance: disease page
Synonyms: CMT1G; PMP2-related Charcot-Marie-Tooth disease type 1; PMP2-related Charcot-Marie-Tooth neuropathy type 1; PMP2-related CMT1; PMP2-related hereditary motor and sensory neuropathy type 1
Alt IDs: OMIM:618279, ORDO:476394
Definition: A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13.