autosomal recessive intellectual developmental disorder 75

Term ID

DOID:0081234

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. https://pubmed.ncbi.nlm.nih.gov/34163010/

References

• OMIM:619827

Ontology

Human Disease   ( DOID:0081234 )