Joubert syndrome 9
MONDO:0012849Mondo
Findings
No curated finding names Joubert syndrome 9 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 CC2D2A gene.
Definition from the Mondo Disease Ontology (MONDO:0012849), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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
- 20 of 20 reported patients
- Intellectual disabilityHPOHP:0001249
- 20 of 20 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 20 of 20 reported patients
- VentriculomegalyHPOHP:0002119
- 13 of 17 reported patients
- NystagmusHPOHP:0000639
- 13 of 19 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 13 of 19 reported patients
- ApneaHPOHP:0002104
Show the remaining 3
- EncephaloceleHPOHP:0002084
- 1 of 20 reported patients
- Hepatic fibrosisHPOHP:0001395
- 1 of 20 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 1 of 20 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.
- HGNC:29253HGNC:29253
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Joubert syndrome 9
- Also called
- CC2D2A Joubert syndromeJBTS9Joubert syndrome caused by mutation in CC2D2AJoubert syndrome type 9