Charcot-Marie-Tooth disease recessive intermediate B
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
MONDO:0017058
autosomal recessive intermediate Charcot-Marie-Tooth disease
is_a
CMTRIB
exact
Charcot-Marie-Tooth disease caused by mutation in KARS
exact
Charcot-Marie-Tooth disease recessive intermediate type B
exact
Charcot-Marie-Tooth disease, recessive Intermediate type B
exact
Charcot-Marie-Tooth disease, recessive intermediate B
related
Charcot-Marie-Tooth disease, recessive intermediate, B
related
KARS Charcot-Marie-Tooth disease
exact
RI-CMT type B
exact
RI-CMTB
exact
autosomal recessive intermediate Charcot-Marie-Tooth disease type B
exact
SPBC17G9.03c SPCC18.08