Charcot-Marie-Tooth disease X-linked recessive 5
X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.
MONDO:0018994
Charcot-Marie-Tooth disease type X
is_a
MONDO:0019236
inborn disorder of purine metabolism
is_a
CMT5X
exact
CMTX5
exact
Charcot-Marie-Tooth disease X-linked recessive type 5
exact
Charcot-Marie-Tooth disease, X-linked recessive, 5
exact
Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive
exact
Charcot-Marie-Tooth disease, X-linked recessive, type 5
exact
Charcot-Marie-Tooth neuropathy X type 5
exact
Charcot-Marie-Tooth neuropathy, X-linked recessive, 5
exact
Rosenberg Chutorian Syndrome
exact
Rosenberg-Chutorian syndrome
exact
X-linked Charcot-Marie-Tooth disease type 5
exact
familial opticoacoustic nerve degeneration and polyneuropathy
exact
optic atrophy, polyneuropathy, and deafness
exact
optic atrophy, sensorineural hearing loss and polyneuropathy
exact
SPBC3D6.06c SPCC1620.06c