Details of Disease

General Information of Disease (ID: DIS2OAEX)

• Disease Name: CDKL5 disorder
• Synonyms: CDKL5; CDKL5-related disorder; CDKL5 disorder; CDKL5 inherited genetic disease; CDKL5 Deficiency Disorder; inherited genetic disease caused by mutation in CDKL5
• Definition: A monogenic disease that has material basis in mutation in the CDKL5 gene.|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.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS2OAEX: CDKL5 disorder

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDKL5	OTGL5HRV	Definitive	X-linked	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.