The new version of OLS (OLS4) will be unavailable for the next few days while we resolve deployment issues.

You can continue to browse this version of OLS, but some ontologies may be out of date.

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0012173 (MONDO:equivalentTo)
CDKL5 [ GARD : 0012173 ]
  • Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity.
  • 2018-06-29T18:32:48Z
  • A monogenic disease that has material basis in mutation in the CDKL5 gene.
excluded subClassOf
has exact synonym
  • inherited genetic disease caused by mutation in CDKL5
  • CDKL5 disorder
  • CDKL5 inherited genetic disease
has related synonym
  • CDKL5
  • CDKL5-related disorder
  • MONDO:0100039
term tracker item