Term Name: Charcot-Marie-Tooth disease type 4B3
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 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 4