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Metadata
ID DOID:0110991
Name Joubert syndrome 22
Definition A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.
https://www.ncbi.nlm.nih.gov/pubmed/24166846
Xrefs

OMIM:615665

Synonyms

JBTS22 [EXACT]

Parent Relationships

is_a Joubert syndrome

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