Term Name: Cockayne syndrome A
Synonyms: Cockayne syndrome type 1, Cockayne syndrome type I
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.
Ontology: Human Disease [DOID:0080907]   ( DOID:0080907 )

Relationships
is a type of: Cockayne syndrome