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Metadata
ID DOID:0080279
Name Joubert syndrome 33
Definition A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21.
https://pubmed.ncbi.nlm.nih.gov/26167768/
Xrefs

OMIM:617767

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is_a Joubert syndrome

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