Cockayne syndrome

GPTKB entity

Statements (28)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:alsoKnownAs Neurodysplastic syndrome
gptkbp:category neurodegenerative disease
DNA repair disorder
progeroid syndrome
gptkbp:causedBy mutations in ERCC6 gene
mutations in ERCC8 gene
gptkbp:diagnosedBy clinical evaluation
genetic testing
gptkbp:firstDescribed 1936
Edward Alfred Cockayne
gptkbp:frequency rare
https://www.w3.org/2000/01/rdf-schema#label Cockayne syndrome
gptkbp:ICD-10_code Q87.1
gptkbp:inheritance autosomal recessive
gptkbp:OMIM 216400
gptkbp:prognosis reduced life expectancy
gptkbp:symptom hearing loss
vision loss
developmental delay
microcephaly
photosensitivity
premature aging
growth failure
progressive neurological dysfunction
gptkbp:treatment supportive care
gptkbp:bfsParent gptkb:XPG
gptkbp:bfsLayer 6