Joubert syndrome 15
MONDO:0013763Mondo
Findings
No curated finding names Joubert syndrome 15 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 CEP41 gene.
Definition from the Mondo Disease Ontology (MONDO:0013763), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 4 of 4 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 3 of 4 reported patients
- ExencephalyHPOHP:0030769
- 1 of 5 reported patients
- Preaxial polydactylyHPOHP:0100258
- 1 of 5 reported patients
- ColobomaHPOHP:0000589
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.
- HGNC:12370HGNC:12370
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: Joubert syndrome 15
- Also called
- CEP41 Joubert syndromeJBTS15Joubert syndrome caused by mutation in CEP41Joubert syndrome type 15