WormBase Tree Display for DO_term: DOID:0070529
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| DOID:0070529 | Name | Sifrim-Hitz-Weiss syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | CHD4 Neurodevelopmental Disorder | |||
| CHD4-related neurodevelopmental disorder | |||||
| CHD4-related neurodevelopmental syndrome | |||||
| SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME | |||||
| SIHIWES | |||||
| Parent | Is_a | DOID:0060307 | |||
| DB_info | Database | OMIM | disease | 617159 | |
| Attribute_of | Gene_by_orthology | WBGene00000482 | |||
| WBGene00002637 |
