autosomal dominant intellectual developmental disorder 5

Term ID

DOID:0070035

Synonyms

• autosomal dominant mental retardation 5
• autosomal dominant non-syndromic intellectual disability 5
• MRD5

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. https://www.ncbi.nlm.nih.gov/pubmed/19196676

References

• OMIM:612621

Ontology

Human Disease   ( DOID:0070035 )