Details of Disease

General Information of Disease (ID: DISSVY6H)

Disease Name Joubert syndrome 18
Synonyms Joubert syndrome 18; JBTS18; Joubert syndrome caused by mutation in TCTN3; Joubert syndrome type 18; TCTN3 Joubert syndrome
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DISSVY6H: Joubert syndrome 18
Disease Identifiers
MONDO ID
MONDO_0013896
UMLS CUI
C3553758
OMIM ID
614815
MedGen ID
766672

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TCTN3 OTZSHERV Strong Autosomal recessive [1]
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References

1 TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017.