A distal hereditary motor neuropathy type 7 that has_material_basis_in heterozygous mutation in DCTN1 on 2p13.1. (DO)
Synonyms
Exact Synonyms:
DHMN7B
;
Distal Hereditary Motor Neuronopathy, Type VIIB
;
HMN VIIB
;
HMN7B
;
Lower Motor Neuron Disease, Dynactin Type
;
Neuropathy, Distal Hereditary Motor, Type VIIB
;
distal hereditary motor neuropathy with vocal cord paralysis, type VIIB
;
distal spinal muscular atrophy with vocal cord paralysis type 7B