FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term blepharophimosis-impaired intellectual development syndrome ID (Ontology) DOID:0081442 (Human Disease)
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.
Also Known As "SMARCA2-related blepharophimosis-intellectual disability syndrome"
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 Genes
 blepharophimosis-impaired intellectual development syndrome       1
 for disease ribbon | blepharophimosis-impaired intellectual development syndrome       1
 model of | blepharophimosis-impaired intellectual development syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                blepharophimosis-impaired intellectual development syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "SMARCA2-related blepharophimosis-intellectual disability syndrome" EXACT
Secondary IDs
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MIM:619293
ORDO:637013