Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bdaebaa6729fb5e3fd61f2b334b0359b6> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bdaebaa6729fb5e3fd61f2b334b0359b6 hasDbXref "https://orcid.org/0000-0002-6733-369X" @default.
- Bdaebaa6729fb5e3fd61f2b334b0359b6 type Axiom @default.
- Bdaebaa6729fb5e3fd61f2b334b0359b6 annotatedProperty comment @default.
- Bdaebaa6729fb5e3fd61f2b334b0359b6 annotatedSource MONDO_0100039 @default.
- Bdaebaa6729fb5e3fd61f2b334b0359b6 annotatedTarget "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." @default.