Term Name:	Charcot-Marie-tooth disease type 1H
Synonyms:	CMT1H
Definition:	A Charcot-Marie-Tooth disease type 1 characterized by foot deformities, upper or lower limb sensory disturbances, and motor deficits (mainly impaired gait) that has_material_basis_in heterozygous mutation in the FBLN5 gene, encoding fibulin-5, on chromosome 14q32. The disorder is slowly progressive and becomes more apparent with age.
Ontology:	Human Disease [DOID:0070833]   ( DOID:0070833 )