Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:alsoKnownAs |
Neurodysplastic syndrome
|
| gptkbp:category |
gptkb:neurodegenerative_disease
gptkb:progeroid_syndrome DNA repair disorder |
| 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
|
| 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:XPD
gptkb:XPG gptkb:XPG3 |
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cockayne syndrome
|