Joubert syndrome 39
MONDO:0030454Mondo
Findings
No curated finding names Joubert syndrome 39 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
13 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Retinal dystrophyHPOHP:0000556
- 4 of 4 reported patients
- Occipital encephaloceleHPOHP:0002085
- 5 of 8 reported patients
- Joint contracture of the 5th fingerHPOHP:0009183
- 2 of 4 reported patients
- OverweightHPOHP:0025502
- 2 of 4 reported patients
- HypopneaHPOHP:0040213
- 1 of 4 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 2 of 8 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 1 of 4 reported patients
- Pain insensitivityHPOHP:0007021
- 1 of 4 reported patients
- Postaxial polydactylyHPOHP:0100259
- 2 of 8 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 8 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 8 reported patients · Fetal onset
Show the remaining 1
- Polycystic kidney dysplasiaHPOHP:0000113
- 1 of 8 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.
- TMEM218HGNC:27344
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Joubert syndrome 39
- Also called
- JBTS39