autosomal dominant intellectual developmental disorder 21

Term ID

DOID:0070051

Synonyms

• autosomal dominant mental retardation 21
• autosomal dominant non-syndromic intellectual disability 21
• MRD21

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. https://www.ncbi.nlm.nih.gov/pubmed/23746550

References

• MIM:615502

Ontology

Human Disease   ( DOID:0070051 )