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ID | DOID:0081265 |
Name | intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
Definition | An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. https://pubmed.ncbi.nlm.nih.gov/31583274/, https://pubmed.ncbi.nlm.nih.gov/35144859/ |
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is_a autosomal recessive intellectual developmental disorder |