autosomal dominant intellectual developmental disorder 48

Term ID

DOID:0080235

Synonyms

• autosomal dominant mental retardation 48

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. https://pubmed.ncbi.nlm.nih.gov/28886345/

References

• OMIM:617751

Ontology

Human Disease   ( DOID:0080235 )