Metadata | |
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ID | DOID:0081234 |
Name | autosomal recessive intellectual developmental disorder 75 |
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/ |
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Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |