autosomal dominant intellectual developmental disorder 29

Term ID

DOID:0070059

Synonyms

• autosomal dominant mental retardation 29
• autosomal dominant non-syndromic intellectual disability 29
• MRD29

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. https://www.ncbi.nlm.nih.gov/pubmed/25217958

References

• OMIM:616078

Ontology

Human Disease   ( DOID:0070059 )