autosomal dominant intellectual developmental disorder 52

Term ID

DOID:0080231

Synonyms

autosomal dominant mental retardation 52

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. https://pubmed.ncbi.nlm.nih.gov/23033978/

References

MIM:617796

Ontology

Human Disease ( DOID:0080231 )

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