has material basis in germline mutation in CDKL5 syndromic intellectual disability pervasive developmental disorder hereditary disease monogenic epilepsy obsolete motor stereotypies X-linked syndromic intellectual disability CDKL5 disorder 2018-06-29T18:32:48Z https://github.com/monarch-initiative/mondo/issues/202 https://github.com/monarch-initiative/mondo/issues/5588 CDKL5-related disorder NORD:904 CDKL5 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. (https://orcid.org/0000-0002-6733-369X) MONDO:0100039 CDKL5 Deficiency Disorder CDKL5 inherited genetic disease CDKL5 disorder A monogenic disease that has material basis in mutation in the CDKL5 gene. GARD:0026021 inherited genetic disease caused by mutation in CDKL5