Joubert syndrome with ocular defect
Findings
No curated finding names Joubert syndrome with ocular defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.
Definition from the Mondo Disease Ontology (MONDO:0016364), read 2026-09-29. CC BY 4.0.
Features
40 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)
- 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)
- Molar tooth sign on MRIHPOHP:0002419
- Very frequent (80% to 99% of cases)
- Oculomotor apraxiaHPOHP:0000657
- Very frequent (80% to 99% of cases)
- Retinal dystrophyHPOHP:0000556
- Very frequent (80% to 99% of cases)
- Biparietal narrowingHPOHP:0004422
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
Show the remaining 28
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- 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 morphologyHPOHP:0003468
- Occasional (5% to 29% of cases)
- Abnormality of the hypothalamus-pituitary axisHPOHP:0000864
- Occasional (5% to 29% of cases)
Genes
5 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.
- AHI1HGNC:21575
- Supportive · Orphanet · Autosomal recessive · 2021
- CEP120HGNC:26690
- Supportive · Orphanet · Autosomal recessive · 2021
- HGNC:12370HGNC:12370
- Supportive · Orphanet · Autosomal recessive · 2021
- INPP5EHGNC:21474
- Supportive · Orphanet · Autosomal recessive · 2021
- MKS1HGNC:7121
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Joubert syndrome with ocular defect
- Also called
- Joubert syndrome with retinopathyJS-O