Charcot-Marie-Tooth disease type 2B5
Synonyms: AR-CMT2B5 | Autosomal recessive Charcot-Marie-Tooth disease type 2B5 | SEOAN due to NEFL deficiency | Severe early-onset axonal neuropathy due to NEFL deficiency | Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Charcot-Marie-Tooth disease type 2B5?
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