autosomal recessive intellectual developmental disorder 50

Term ID

DOID:0081213

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. https://pubmed.ncbi.nlm.nih.gov/25701870/

References

• OMIM:616460

Ontology

Human Disease   ( DOID:0081213 )