autosomal recessive intellectual developmental disorder 59

Term ID

DOID:0081221

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. https://pubmed.ncbi.nlm.nih.gov/26416544/

References

• OMIM:617323

Ontology

Human Disease   ( DOID:0081221 )