Joubert syndrome 20
MONDO:0013994Mondo
Findings
No curated finding names Joubert syndrome 20 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 TMEM231 gene.
Definition from the Mondo Disease Ontology (MONDO:0013994), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 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.
- Absent speechHPOHP:0001344
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Inability to walkHPOHP:0002540
- 3 of 3 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 3 of 3 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 3 of 3 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 3 of 3 reported patients
- 4-5 toe syndactylyHPOHP:0004692
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.
- TMEM231HGNC:37234
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Joubert syndrome 20
- Also called
- JBTS20Joubert syndrome caused by mutation in TMEM231Joubert syndrome type 20TMEM231 Joubert syndrome