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- Bfb4756b08f5e26456efc4cebf9269dc3 hasDbXref "https://orcid.org/0000-0002-6733-369X" @default.
- Bfb4756b08f5e26456efc4cebf9269dc3 type Axiom @default.
- Bfb4756b08f5e26456efc4cebf9269dc3 annotatedProperty comment @default.
- Bfb4756b08f5e26456efc4cebf9269dc3 annotatedSource MONDO_0100039 @default.
- Bfb4756b08f5e26456efc4cebf9269dc3 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.