autosomal dominant intellectual developmental disorder 42

Term ID

DOID:0070072

Synonyms

• autosomal dominant mental retardation 42
• autosomal dominant non-syndromic intellectual disability 42
• MRD42

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. https://www.ncbi.nlm.nih.gov/pubmed/27108799

References

• OMIM:616973

Ontology

Human Disease   ( DOID:0070072 )