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/27080038 http://www.ncbi.nlm.nih.gov/pubmed/22872100 http://www.ncbi.nlm.nih.gov/pubmed/27528505 ]
- GARD:0012173 (MONDO:equivalentTo)
- 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.
- A monogenic disease that has material basis in mutation in the CDKL5 gene.
- inherited genetic disease caused by mutation in CDKL5
- CDKL5 disorder
- CDKL5 inherited genetic disease
- CDKL5-related disorder