autosomal dominant intellectual developmental disorder 23

Term ID

DOID:0070053

Synonyms

• autosomal dominant mental retardation 23
• autosomal dominant non-syndromic intellectual disability 23
• MRD23

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. https://www.ncbi.nlm.nih.gov/pubmed/24680889

References

• MIM:615761

Ontology

Human Disease   ( DOID:0070053 )