Joubert syndrome 2
MONDO:0011963Mondo
Findings
No curated finding names Joubert syndrome 2 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 TMEM216 gene.
Definition from the Mondo Disease Ontology (MONDO:0011963), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 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
- 13 of 13 reported patients
- HypotoniaHPOHP:0001252
- 13 of 13 reported patients
- Intellectual disabilityHPOHP:0001249
- 13 of 13 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 13 of 13 reported patients
- Rotary nystagmusHPOHP:0001583
- 11 of 13 reported patients
- DolichocephalyHPOHP:0000268
- 6 of 13 reported patients
- Frontal bossingHPOHP:0002007
Show the remaining 6
- Metopic synostosisHPOHP:0011330
- 1 of 13 reported patients
- SeizureHPOHP:0001250
- 1 of 13 reported patients
- Agenesis of cerebellar vermisHPOHP:0002335
- Dysgenesis of the cerebellar vermisHPOHP:0002195
- Failure to thriveHPOHP:0001508
- Oculomotor apraxiaHPOHP:0000657
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.
- TMEM216HGNC:25018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: Joubert syndrome 2
- Also called
- cerebellooculorenal syndrome 2CORS2JBTS2Joubert syndrome caused by mutation in TMEM216Joubert syndrome type 2TMEM216 Joubert syndrome