| Metadata | |
|---|---|
| ID | DOID:0070717 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070717 Copy |
| Name | developmental delay with sleep apnea |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621402 |
| Subsets |
DO_rare_slim |
| Synonyms |
DDSA [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |