autosomal dominant intellectual developmental disorder 2

Term ID

DOID:0070032

Synonyms

• autosomal dominant mental retardation 2
• autosomal dominant non-syndromic intellectual disability 2
• MRD2

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. https://www.ncbi.nlm.nih.gov/pubmed/18060736

References

• MIM:614113

Ontology

Human Disease   ( DOID:0070032 )