| Metadata | |
|---|---|
| ID | DOID:0070529 |
| Name | Sifrim-Hitz-Weiss syndrome |
| Definition | An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. https://pubmed.ncbi.nlm.nih.gov/27479907/, https://pubmed.ncbi.nlm.nih.gov/27616479/, https://www.ncbi.nlm.nih.gov/books/NBK561516/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CHD4 Neurodevelopmental Disorder [EXACT] CHD4-related neurodevelopmental disorder [EXACT] CHD4-related neurodevelopmental syndrome [EXACT] SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME [EXACT] SIHIWES [EXACT] |
| Parent Relationships |