Joubert syndrome 33
MONDO:0033311Mondo
Findings
No curated finding names Joubert syndrome 33 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- AtaxiaHPOHP:0001251
- 4 of 5 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 3 of 5 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 3 of 5 reported patients
- ApneaHPOHP:0002104
- 2 of 5 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 6 reported patients
- HypotoniaHPOHP:0001252
- 1 of 6 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 6 reported patients
- SyndactylyHPOHP:0001159
- 1 of 6 reported patients
- Cone/cone-rod dystrophyHPOHP:0000548
- 0 of 6 reported patients
- SplenomegalyHPOHP:0001744
- 0 of 6 reported patients
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.
- PIBF1HGNC:23352
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of