A monogenic disease that has material basis in mutation in the CDKL5 gene. [ http://www.ncbi.nlm.nih.gov/pubmed/21154482 http://www.ncbi.nlm.nih.gov/pubmed/27528505 http://www.ncbi.nlm.nih.gov/pubmed/22872100 http://www.ncbi.nlm.nih.gov/pubmed/27080038 ]
Synonyms: CDKL5 disorder CDKL5 inherited genetic disease inherited genetic disease caused by mutation in CDKL5
Term information
- NORD:904 (MONDO:NORD)
rare, nord_rare, clingen
https://github.com/monarch-initiative/mondo/issues/5588
https://github.com/monarch-initiative/mondo/issues/202
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.
http://purl.obolibrary.org/obo/MONDO_0015653
http://purl.obolibrary.org/obo/MONDO_0000594
http://purl.obolibrary.org/obo/MONDO_0020119
http://purl.obolibrary.org/obo/MONDO_0017656
http://purl.obolibrary.org/obo/MONDO_0000508