autosomal dominant intellectual developmental disorder 66

Term ID

DOID:0061039

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. https://pubmed.ncbi.nlm.nih.gov/35358416/

References

• MIM:619910

Ontology

Human Disease   ( DOID:0061039 )