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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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MIM:618342

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is_a autosomal recessive intellectual developmental disorder

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