Details of Disease
General Information of Disease (ID: DISXLR5C)
Disease Name | Charcot-Marie-Tooth disease type 2B5 | |||||
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Synonyms |
severe early-onset axonal neuropathy due to NEFL deficiency; AR-CMT2B5; Charcot-Marie-Tooth disease type 2B5; severe early-onset axonal neuropathy due to light neurofilament subunit deficiency; SEOAN due to NEFL deficiency; autosomal recessive Charcot-Marie-Tooth disease type 2B5
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Definition |
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.
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Disease Hierarchy | ||||||
Disease Identifiers | ||||||
Molecular Interaction Atlas (MIA) of This Disease
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This Disease Is Related to 1 DOT Molecule(s)
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