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Human Disease

Joubert syndrome 31

Term ID
DOID:0080277
Synonyms
Definition
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. https://pubmed.ncbi.nlm.nih.gov/27208211/
References
Ontology
Human Disease   ( DOID:0080277 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models