autosomal dominant intellectual developmental disorder 41

Term ID

DOID:0070071

Synonyms

• autosomal dominant mental retardation 41
• autosomal dominant non-syndromic intellectual disability 41
• MRD41

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. https://www.ncbi.nlm.nih.gov/pubmed/25102098

References

• OMIM:616944

Ontology

Human Disease   ( DOID:0070071 )