autosomal dominant intellectual developmental disorder 46

Term ID

DOID:0080237

Synonyms

• autosomal dominant mental retardation 46

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. https://pubmed.ncbi.nlm.nih.gov/28669405/

References

• OMIM:617601

Ontology

Human Disease   ( DOID:0080237 )