Human genes for Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2E [DOID:0110165]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.
Synonyms: Charcot-Marie-Tooth disease type 2E, CharcotMarieTooth disease type 2E, DOID:0110165, autosomal dominant Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth neuropathy type 2E ...