Charcot-Marie-Tooth disease dominant intermediate F
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.
MONDO:0019548
autosomal dominant intermediate Charcot-Marie-Tooth disease
is_a
CMTDIF
exact
Charcot-Marie-Tooth disease dominant intermediate type F
exact
Charcot-Marie-Tooth disease, dominant Intermediate type F
exact
Charcot-Marie-Tooth disease, dominant intermediate F
related
DI-CMTF
related
GNB4-related intermediate Charcot-Marie-Tooth neuropathy
related
autosomal dominant intermediate Charcot-Marie-Tooth disease type F
exact
SPBC32H8.07