Sifrim-Hitz-Weiss Syndrome
Disease ID: disease_node_16531
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| Dbxref | MIM:617159, ORDO:653712 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | CHD4 Neurodevelopmental Disorder, CHD4-related neurodevelopmental disorder, CHD4-related neurodevelopmental syndrome, SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME, SIHIWES |
| Doid Label | Sifrim-Hitz-Weiss syndrome |
| Doid Description | An autosomal domit 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. |
| Disease Node Id | disease_node_16531 |
| Doid Id | DOID_0070529 |
| Label | Sifrim-Hitz-Weiss Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)