autosomal dominant intellectual developmental disorder 11

Term ID

DOID:0070041

Synonyms

• autosomal dominant mental retardation 11
• autosomal dominant non-syndromic intellectual disability 11
• MRD11

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. https://www.ncbi.nlm.nih.gov/pubmed/21376300

References

• MIM:614257

Ontology

Human Disease   ( DOID:0070041 )