Term Name:	Charcot-Marie-tooth disease type 1J
Synonyms:	CMT1J
Definition:	A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. This disease is progressive but highly variable in both age of onset, ranging from early childhood to mid-adulthood, and severity.
Ontology:	Human Disease [DOID:0070835]   ( DOID:0070835 )