autosomal dominant intellectual developmental disorder 53

Term ID

DOID:0080228

Synonyms

autosomal dominant mental retardation 53

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. https://pubmed.ncbi.nlm.nih.gov/29100089/

References

MIM:617798

Ontology

Human Disease ( DOID:0080228 )

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