Joubert syndrome with renal defect
Findings
No curated finding names Joubert syndrome with renal defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
Definition from the Mondo Disease Ontology (MONDO:0012308), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
41 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.
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Delayed gross motor developmentHPOHP:0002194
- 2 of 2 reported patients
- Abnormal pattern of respirationHPOHP:0002793
- Very frequent (80% to 99% of cases)
- ApneaHPOHP:0002104
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 29
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Hypometric saccadesHPOHP:0000571
- 1 of 2 reported patients
Genes
3 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.
Where it sits
- A kind of
Other names
3 names
Resolves to: Joubert syndrome with renal defect
- Also called
- JBTS4Joubert syndrome type 4JS-R