autosomal recessive intellectual developmental disorder 58

Term ID

DOID:0081220

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. https://pubmed.ncbi.nlm.nih.gov/33976153/

References

• OMIM:617270

Ontology

Human Disease   ( DOID:0081220 )