Joubert syndrome 5
MONDO:0012432Mondo
Findings
No curated finding names Joubert syndrome 5 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 CEP290 gene.
Definition from the Mondo Disease Ontology (MONDO:0012432), 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.
- Aplasia/Hypoplasia of the cerebellar vermisHPOHP:0006817
- 10 of 10 reported patients
- AtaxiaHPOHP:0001251
- 19 of 19 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 9 of 9 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 11 of 12 reported patients · Juvenile onset
- Intellectual disabilityHPOHP:0001249
- 15 of 17 reported patients
- Congenital blindnessHPO
Show the remaining 6
- Reduced renal corticomedullary differentiationHPOHP:0005565
- 1 of 8 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 9 reported patients
- Cleft palateHPOHP:0000175
- 1 of 9 reported patients
- PtosisHPOHP:0000508
- 1 of 9 reported patients
- Agenesis of cerebellar vermisHPOHP:0002335
- Reduced visual acuityHPOHP:0007663
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.
- CEP290HGNC:29021
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
4 names
Resolves to: Joubert syndrome 5
- Also called
- CEP290 Joubert syndromeJBTS5Joubert syndrome caused by mutation in CEP290Joubert syndrome type 5