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Metadata
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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MIM:619827

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is_a autosomal recessive intellectual developmental disorder

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