Disease

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.

Synonyms

SMARCA2-related blepharophimosis-intellectual disability syndrome

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

Gene	Species	Association	Disease Qualifier	Disease	Evidence	Based On	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Alleles

Allele	Species	Association	Disease Qualifier	Disease	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Models

Model	Species	Experimental condition	Association	Disease Qualifiers	Disease	Condition Modifier	Genetic Modifier	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page