Charcot-Marie-Tooth disease X-linked recessive 4
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.
MONDO:0018994
Charcot-Marie-Tooth disease type X
is_a
CMT4X
exact
CMTX 4
exact
CMTX4
exact
COWCK
exact
Charcot-Marie-Tooth disease X-linked recessive type 4
exact
Charcot-Marie-Tooth disease with deafness and intellectual disability
exact
Charcot-Marie-Tooth disease with deafness and mental retardation
exact
Charcot-Marie-Tooth disease, X-linked recessive, 4
exact
Cowchock syndrome, X-linked recessive
exact
NADMR
exact
NAMSD
exact
X-linked Charcot-Marie-Tooth disease type 4
exact
axonal motor sensory neuropathy with deafness and intellectual disability
exact
cowchock syndrome
exact
neuropathy, axonal motor-sensory with deafness and intellectual disability
related
neuropathy, axonal motor-sensory with deafness and mental retardation
related
neuropathy, axonal motor-sensory, with deafness and mental retardation
related
SPAC26F1.14c