autosomal dominant intellectual developmental disorder type FRA12A

Term ID

DOID:0061049

Synonyms

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/17236128/

References

• MIM:136630

Ontology

Human Disease   ( DOID:0061049 )