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- B73aaa4f39289a5585f871772acab803a hasDbXref "Orphanet:99951" @default.
- B73aaa4f39289a5585f871772acab803a type Axiom @default.
- B73aaa4f39289a5585f871772acab803a annotatedProperty IAO_0000115 @default.
- B73aaa4f39289a5585f871772acab803a annotatedSource MONDO_0011527 @default.
- B73aaa4f39289a5585f871772acab803a annotatedTarget "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." @default.