autosomal dominant intellectual developmental disorder 19

Term ID

DOID:0070049

Synonyms

• autosomal dominant mental retardation 19
• autosomal dominant non-syndromic intellectual disability 19
• MRD19

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. https://www.ncbi.nlm.nih.gov/pubmed/23033978

References

• MIM:615075

Ontology

Human Disease   ( DOID:0070049 )