Search Ontology:
Human Disease
developmental delay with sleep apnea
- Term ID
- DOID:0070717
- Synonyms
-
- DDSA
- Definition
- An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties that has_material_basis_in heterozygous mutation in the KCNK3 gene on chromosome 2p23. https://pmc.ncbi.nlm.nih.gov/articles/PMC9534757/
- References
- Ontology
- Human Disease ( DOID:0070717 )
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Genes Involved
Zebrafish Models