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

• OMIM:617798

Ontology

Human Disease   ( DOID:0080228 )