Joubert syndrome 24

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Information
Disease name
Joubert syndrome 24
Disease ID
DOID:0110993
Description
"A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21565611, url:https\://www.ncbi.nlm.nih.gov/pubmed/25118024]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:0050777
Cross Reference ID (Disease Ontology)
MIM:616654
Exact Synonym (Disease Ontology)
JBTS24