autosomal recessive intellectual developmental disorder 5

Term ID

DOID:0081181

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. https://pubmed.ncbi.nlm.nih.gov/22541559/

References

• OMIM:611091

Ontology

Human Disease   ( DOID:0081181 )