autosomal recessive intellectual developmental disorder 51

Term ID

DOID:0081214

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. https://pubmed.ncbi.nlm.nih.gov/26206890/

References

• OMIM:616739

Ontology

Human Disease   ( DOID:0081214 )