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Metadata
ID DOID:0081206
PURL http://purl.obolibrary.org/obo/DOID_0081206 Copy
Name autosomal recessive intellectual developmental disorder 41
Definition An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.
https://pubmed.ncbi.nlm.nih.gov/25847626/
Xrefs

MIM:615637

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is_a autosomal recessive intellectual developmental disorder

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