Cockayne syndrome B

Term ID

DOID:0080908

Synonyms

• Cockayne syndrome 2
• Cockayne syndrome type II

Definition

A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. https://www.ncbi.nlm.nih.gov/books/NBK1342/

References

• GARD:1420
• MIM:133540
• ORDO:90322

Ontology

Human Disease   ( DOID:0080908 )