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

MIM:617751

Ontology

Human Disease ( DOID:0080235 )

Relationships

is a type of: autosomal dominant intellectual developmental disorder

autosomal dominant intellectual developmental disorder Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models