Joubert syndrome with oculorenal defect
Findings
No curated finding names Joubert syndrome with oculorenal defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.
Definition from the Mondo Disease Ontology (MONDO:0009480), read 2026-09-29. CC BY 4.0.
Features
53 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.
- AnemiaHPOHP:0001903
- 5 of 5 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Hepatic fibrosisHPOHP:0001395
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Molar tooth sign on MRIHPOHP:0002419
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- PolydipsiaHPOHP:0001959
- 3 of 3 reported patients
- PolyuriaHPOHP:0000103
- 3 of 3 reported patients
- Renal corticomedullary cystsHPOHP:0000108
- 5 of 5 reported patients
- Renal sodium wastingHPOHP:0012606
- 5 of 5 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 5 of 5 reported patients · Childhood onset
- ApneaHPOHP:0002104
- Very frequent (80% to 99% of cases)
Show the remaining 41
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- 4 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- NephropathyHPOHP:0000112
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
Genes
7 genes
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
- Supportive · Orphanet · Autosomal recessive · 2021
- HGNC:29253HGNC:29253
- Supportive · Orphanet · Autosomal recessive · 2021
- TMEM138HGNC:26944
- Supportive · Orphanet · Autosomal recessive · 2021
- TMEM216HGNC:25018
- Supportive · Orphanet · Autosomal recessive · 2021
- TMEM231HGNC:37234
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: Joubert syndrome with oculorenal defect
- Also called
- Arima syndromeCerebellooculorenal syndromeCORSDekaban-Arima syndromeJoubert syndrome with Senior-Loken syndromeJS type BJS-OR