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ID DOID:0081233
PURL http://purl.obolibrary.org/obo/DOID_0081233 Copy
Name autosomal recessive intellectual developmental disorder 73
Definition An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11.
https://pubmed.ncbi.nlm.nih.gov/34230638/
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MIM:619717

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is_a autosomal recessive intellectual developmental disorder

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