Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.
MONDO:0018995
Charcot-Marie-Tooth disease type 4
is_a
MONDO:0033352
neuropathy, congenital hypomelinating
is_a
CHN
related
CHN1
related
CMT 4E
related
CMT4E
exact
Charcot Marie Tooth disease type 4E
related
Charcot-Marie-Tooth disease type 4E
exact
Neuropathy, Congenital Hypomyelination
exact
autosomal recessive congenital hypomyelinating neuropathy
exact
congenital hypomyelinating neuropathy (CHN)
related
congenital hypomyelination neuropathy
related
hypomyelinating neuropathy, congenital, 1
exact
neuropathy, congenital hypomyelinating
related
neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive
related