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Metadata
ID DOID:0081220
Name autosomal recessive intellectual developmental disorder 58
Definition An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12.
https://pubmed.ncbi.nlm.nih.gov/33976153/
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MIM:617270

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is_a autosomal recessive intellectual developmental disorder

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