autosomal dominant intellectual developmental disorder 1

Term ID

DOID:0070031

Synonyms

• autosomal dominant mental retardation 1
• autosomal dominant non-syndromic intellectual disability 1
• MRD1

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. https://www.ncbi.nlm.nih.gov/pubmed/21981781

References

• OMIM:156200

Ontology

Human Disease   ( DOID:0070031 )