autosomal recessive intellectual developmental disorder 6

Term ID

DOID:0081182

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. https://pubmed.ncbi.nlm.nih.gov/25039795/

References

• MIM:611092

Ontology

Human Disease   ( DOID:0081182 )