Metadata | |
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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 | |
Parent Relationships |
is_a Joubert syndrome |