| Metadata | |
|---|---|
| ID | DOID:0070695 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070695 Copy |
| Name | Yu-Kury neurodevelopmental syndrome |
| Definition | An autosomal dominant intellectual developmental disorder characterized by developmental delay, speech delay, motor delay, and intellectual disability that has_material_basis_in heterozygous mutation in the PSMC5 gene on chromosome 12q23. https://pmc.ncbi.nlm.nih.gov/articles/PMC12658096/, https://pmc.ncbi.nlm.nih.gov/articles/PMC11336065/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621565 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |