Charcot-Marie-Tooth disease type 2B5
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
AR-CMT2B5
exact
Charcot-Marie-Tooth disease type 2B5
exact
SEOAN due to NEFL deficiency
exact
autosomal recessive Charcot-Marie-Tooth disease type 2B5
exact
severe early-onset axonal neuropathy due to NEFL deficiency
exact
severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
exact