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GTR Home > Conditions/Phenotypes > Intellectual disability, FRA12A type

Intellectual disability, FRA12A type

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE

Summary

FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000). However, impaired intellectual development with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , DIP2B
    Summary: disco interacting protein 2 homolog B

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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