Term Name: | Charcot-Marie-Tooth disease type 4B3 |
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Synonyms: | CMT4B3 |
Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. |
Ontology: | Human Disease [DOID:0110194] ( DOID:0110194 ) |