| Metadata | |
|---|---|
| ID | DOID:0112247 |
| Name | congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
| Definition | A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. https://pubmed.ncbi.nlm.nih.gov/27479907/, https://pubmed.ncbi.nlm.nih.gov/29021403/, https://www.ncbi.nlm.nih.gov/books/NBK536784/ |
| Xrefs | |
| Synonyms |
CDK13-Related CHDFIDD [EXACT] CDK13-Related Disorder [EXACT] CHDFIDD [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |