Search Ontology:
Human Disease

Charcot-Marie-tooth disease type 1I

Term ID
DOID:0070834
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. https://pubmed.ncbi.nlm.nih.gov/33417887/
References
Ontology
Human Disease   ( DOID:0070834 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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