autosomal recessive intellectual developmental disorder 70

Term ID

DOID:0081231

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. https://pubmed.ncbi.nlm.nih.gov/28640246/

References

• OMIM:618402

Ontology

Human Disease   ( DOID:0081231 )