Charcot-Marie-Tooth disease type 2B5 https://www.malacards.org/card/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:0016454 autosomal recessive Charcot-Marie-Tooth disease type 2B5 icd11.foundation:1603286685 AR-CMT2B5 Charcot-Marie-Tooth disease type 2B5 MEDGEN:1668955 GARD:0017153 Orphanet:228374 SEOAN due to NEFL deficiency UMLS:C4749824 severe early-onset axonal neuropathy due to light neurofilament subunit deficiency severe early-onset axonal neuropathy due to NEFL deficiency Charcot-Marie-Tooth disease type 2