Synonyms: Charcot-Marie-Tooth disease type 3 | HMSN 3 | HMSN III | Hereditary motor and sensory neuropathy type 3 | Hereditary motor and sensory neuropathy type III
A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy severe motor weakness delayed motor development extremely slow nerve conduction (< 10-12 m/s) areflexia and foot deformity. Mutations in the genes PMP22 (17p12) MPZ (1q22) EGR2 (10q21.1) and PRX (19q13.2) have been implicated.
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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