Schuurs-Hoeijmakers Syndrome
Information
- Disease name
- Schuurs-Hoeijmakers Syndrome
- Disease ID
- DOID:0070047
- Description
- "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26842493]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060307
- Cross Reference ID (Disease Ontology)
- MIM:615009
- Exact Synonym (Disease Ontology)
- autosomal dominant mental retardation 17
- Exact Synonym (Disease Ontology)
- MRD17
- Exact Synonym (Disease Ontology)
- SHMS