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

MIM:617601

Ontology

Human Disease ( DOID:0080237 )

Relationships

is a type of: autosomal dominant intellectual developmental disorder

autosomal dominant intellectual developmental disorder Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models