autosomal recessive intellectual developmental disorder 38

Term ID

DOID:0081203

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. https://pubmed.ncbi.nlm.nih.gov/23243086/

References

• OMIM:615516

Ontology

Human Disease   ( DOID:0081203 )