Joubert syndrome 7
MONDO:0012694Mondo
Findings
No curated finding names Joubert syndrome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
Definition from the Mondo Disease Ontology (MONDO:0012694), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- AtaxiaHPOHP:0001251
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 7 reported patients
- NephronophthisisHPOHP:0000090
- 6 of 7 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 6 of 7 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 6 of 7 reported patients · Juvenile onset
- Molar tooth sign on MRIHPOHP:0002419
- 5 of 6 reported patients
- NystagmusHPOHP:0000639
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.
- RPGRIP1LHGNC:29168
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 7
- Also called
- JBTS7Joubert syndrome caused by mutation in RPGRIP1LJoubert syndrome type 7RPGRIP1L Joubert syndrome