autosomal dominant intellectual developmental disorder 40

Term ID

DOID:0070070

Synonyms

• autosomal dominant mental retardation 40
• autosomal dominant non-syndromic intellectual disability 40
• MRD40

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. https://www.ncbi.nlm.nih.gov/pubmed/25533962

References

• MIM:616579

Ontology

Human Disease   ( DOID:0070070 )