| Metadata | |
|---|---|
| ID | DOID:0070709 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070709 Copy |
| Name | Popov-Chang syndrome |
| Definition | An autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development with poor or absent speech that has_material_basis_in heterozygous mutation in the YWHAZ gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/36001342/, https://pubmed.ncbi.nlm.nih.gov/31024343/ |
| Xrefs | |
| SKOS |
exactMatch MIM:618428 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |