blepharophimosis-impaired intellectual development syndrome
Information
- Disease name
- blepharophimosis-impaired intellectual development syndrome
- Disease ID
- DOID:0081442
- Description
- "A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24." [url:https\://pubmed.ncbi.nlm.nih.gov/32694869/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MIM:619293
- Cross Reference ID (Disease Ontology)
- ORDO:637013
- Exact Synonym (Disease Ontology)
- SMARCA2-related blepharophimosis-intellectual disability syndrome