Joubert syndrome
Findings
No curated finding names Joubert syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Definition from the Mondo Disease Ontology (MONDO:0018772), read 2026-09-29. CC BY 4.0.
Features
37 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.
- Abnormal pattern of respirationHPOHP:0002793
- Very frequent (80% to 99% of cases)
- ApneaHPOHP:0002104
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- Very frequent (80% to 99% of cases)
- Episodic tachypneaHPOHP:0002876
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Oculomotor apraxiaHPOHP:0000657
- Very frequent (80% to 99% of cases)
- Biparietal narrowingHPOHP:0004422
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
Show the remaining 25
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Occasional (5% to 29% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Occasional (5% to 29% of cases)
- Abnormality of the hypothalamus-pituitary axisHPOHP:0000864
- Occasional (5% to 29% of cases)
Genes
23 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.
- ARL13BHGNC:25419
- Definitive · ClinGen · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- SLC30A7HGNC:19306
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2023
- SUFUHGNC:16466
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- AHI1HGNC:21575
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (39)
- Joubert syndrome 1
- Joubert syndrome 10
- Joubert syndrome 11
- Joubert syndrome 13
- Joubert syndrome 14
- Joubert syndrome 15
- Joubert syndrome 16
- Joubert syndrome 17
- Joubert syndrome 18
- Joubert syndrome 19
- Joubert syndrome 2
- Joubert syndrome 20
- Joubert syndrome 21
- Joubert syndrome 22
- Joubert syndrome 23
- Joubert syndrome 24
- Joubert syndrome 25
- Joubert syndrome 26
- Joubert syndrome 27
- Joubert syndrome 28
- Joubert syndrome 29
- Joubert syndrome 3
- Joubert syndrome 30
Other names
6 names
Resolves to: Joubert syndrome
- Also called
- cerebelloparenchymal disorder IVclassic Joubert syndromeCPD IVJoubert syndrome type AJoubert-Boltshauser syndromepure Joubert syndrome