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Charcot-Marie-Tooth disease X-linked recessive 4

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
Uniprot Description An X-linked recessive neuromuscular disorder characterized by early childhood onset of a slowly progressive axonal sensorimotor neuropathy associated in some patients with sensorineural deafness and cognitive impairment.
Mondo Term and Equivalent IDs
MONDO:0010689:  Charcot-Marie-Tooth disease X-linked recessive 4
GARD:0001240: 
Orphanet:101078: 
SCTID:763400005: