Joubert syndrome 14
MONDO:0013745Mondo
Findings
No curated finding names Joubert syndrome 14 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 TMEM237 gene.
Definition from the Mondo Disease Ontology (MONDO:0013745), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- NystagmusHPOHP:0000639
- 12 of 14 reported patients
- Renal cystHPOHP:0000107
- 15 of 18 reported patients
- StrabismusHPOHP:0000486
- 9 of 14 reported patients
- HydrocephalusHPOHP:0000238
- 10 of 19 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 9 of 19 reported patients
- EncephaloceleHPOHP:0002084
- 7 of 19 reported patients
- Morning glory anomalyHPOHP:0025514
Show the remaining 8
- Optic atrophyHPOHP:0000648
- 1 of 14 reported patients
- Cleft palateHPOHP:0000175
- 1 of 19 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 1 of 19 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 19 reported patients
- Intracranial hemorrhageHPOHP:0002170
- 1 of 19 reported patients
- MeningoceleHPOHP:0002435
- 1 of 19 reported patients
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.
- TMEM237HGNC:14432
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: Joubert syndrome 14
- Also called
- JBTS14Joubert syndrome caused by mutation in TMEM237Joubert syndrome type 14TMEM237 Joubert syndrome