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Metadata
ID DOID:0061049
Name autosomal dominant intellectual developmental disorder type FRA12A
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/
Xrefs

MIM:136630

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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