autosomal dominant intellectual developmental disorder 70

Term ID

DOID:0061043

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. https://pubmed.ncbi.nlm.nih.gov/32710489/

References

• MIM:620157

Ontology

Human Disease   ( DOID:0061043 )