Term Name:	Charcot-Marie-tooth disease type 1I
Synonyms:	CMT1I
Definition:	A Charcot-Marie-Tooth disease type 1 characterized by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs that has_material_basis_in heterozygous mutation in the POLR3B gene on chromosome 12q23. This disease is progressive.
Ontology:	Human Disease [DOID:0070834]   ( DOID:0070834 )