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Metadata
ID DOID:0081212
Name autosomal recessive intellectual developmental disorder 48
Definition An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13.
https://pubmed.ncbi.nlm.nih.gov/25704603/
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MIM:616269

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is_a autosomal recessive intellectual developmental disorder

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