autosomal dominant intellectual developmental disorder 6

Term ID

DOID:0070036

Synonyms

• autosomal dominant mental retardation 6
• autosomal dominant non-syndromic intellectual disability 6
• MRD6

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. https://www.ncbi.nlm.nih.gov/pubmed/20890276

References

• MIM:613970

Ontology

Human Disease   ( DOID:0070036 )