autosomal dominant intellectual developmental disorder 47

Term ID

DOID:0080238

Synonyms

• autosomal dominant mental retardation 47

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. https://pubmed.ncbi.nlm.nih.gov/28119487/

References

• OMIM:617635

Ontology

Human Disease   ( DOID:0080238 )