blepharophimosis-impaired intellectual development syndrome

Term ID

DOID:0081442

Synonyms

• 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

• OMIM:619293
• ORDO:637013

Ontology

Human Disease   ( DOID:0081442 )