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Human Disease

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
Ontology
Human Disease   ( DOID:0081442 )
Relationships
is a type of
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Genes Involved
Zebrafish Models