Joubert syndrome 16
MONDO:0013764Mondo
Findings
No curated finding names Joubert syndrome 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.
Definition from the Mondo Disease Ontology (MONDO:0013764), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Molar tooth sign on MRIHPOHP:0002419
- 12 of 12 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 8 of 11 reported patients
- ColobomaHPOHP:0000589
- 6 of 11 reported patients
- Retinal dystrophyHPOHP:0000556
- 3 of 11 reported patients
- Renal cystHPOHP:0000107
- 2 of 11 reported patients
- NephronophthisisHPOHP:0000090
- 1 of 11 reported patients
- Dandy-Walker malformationHPOHP:0001305
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TMEM138HGNC:26944
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: Joubert syndrome 16
- Also called
- JBTS16Joubert syndrome caused by mutation in TMEM138Joubert syndrome type 16TMEM138 Joubert syndrome