| Metadata | |
|---|---|
| ID | DOID:0081442 |
| Name | blepharophimosis-impaired intellectual development 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SMARCA2-related blepharophimosis-intellectual disability syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |