Search Ontology:
Human Disease
blepharophimosis-impaired intellectual development syndrome
- Term ID
- DOID:0081442
- Synonyms
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- SMARCA2-related blepharophimosis-intellectual disability syndrome
- Definition
- 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. https://pubmed.ncbi.nlm.nih.gov/32694869/
- References
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- MIM:619293
- ORDO:637013
- Ontology
- Human Disease ( DOID:0081442 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models