Joubert syndrome 25
MONDO:0014770Mondo
Findings
No curated finding names Joubert syndrome 25 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 CEP104 gene.
Definition from the Mondo Disease Ontology (MONDO:0014770), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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
- 3 of 3 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 3 of 3 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 3 of 3 reported patients
- AtaxiaHPOHP:0001251
- 2 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 3 reported patients
- Abnormal electroretinogramHPOHP:0000512
- 1 of 3 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.
- CEP104HGNC:24866
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 25
- Also called
- CEP104 Joubert syndromeJBTS25Joubert syndrome caused by mutation in CEP104Joubert syndrome type 25