MONDO:0012250

released
Term Name
Charcot-Marie-Tooth disease type 4H
External Reference
Synonyms
Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4, CMT4H, Charcot-Marie-Tooth neuropathy type 4H, FGD4 Charcot-Marie-Tooth disease type 4, autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H, autosomal recessive Charcot-Marie-Tooth disease type 4H
Definition
Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy