Cockayne syndrome A (DOID:0080907)
Alliance: disease page
Synonyms: Cockayne syndrome type 1; Cockayne syndrome type I
Alt IDs: OMIM:216400, ORDO:90321
Definition: A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11.