Term Name: | autosomal recessive intellectual developmental disorder 75 |
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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. |
Ontology: | Human Disease [DOID:0081234] ( DOID:0081234 ) |