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Metadata
ID DOID:0080908
Name Cockayne syndrome B
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/
Xrefs

GARD:1420

MIM:133540

ORDO:90322

Subsets

DO_rare_slim

Synonyms

Cockayne syndrome 2 [EXACT]

Cockayne syndrome type II [EXACT]

Parent Relationships

is_a Cockayne syndrome

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