Term Name: | Charcot-Marie-Tooth disease type 4G |
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Synonyms: | autosomal recessive Charcot-Marie-Tooth disease type 4G, Charcot-Marie-Tooth neuropathy type 4G, CMT4G, HMSNR |
Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. |
Ontology: | Human Disease [DOID:0110196] ( DOID:0110196 ) |