Joubert syndrome 8
MONDO:0012855Mondo
Findings
No curated finding names Joubert syndrome 8 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 ARL13B gene.
Definition from the Mondo Disease Ontology (MONDO:0012855), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
18 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 5 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
Show the remaining 6
- Oculomotor apraxiaHPOHP:0000657
- 4 of 4 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 1 reported patient
- Prolonged neonatal jaundiceHPOHP:0006579
- 1 of 1 reported patient
- Occipital encephaloceleHPOHP:0002085
- 2 of 4 reported patients · Congenital onset
- Pigmentary retinopathyHPOHP:0000580
- 1 of 4 reported patients
- PtosisHPOHP:0000508
- 1 of 4 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.
- ARL13BHGNC:25419
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 8
- Also called
- ARL13B Joubert syndromeJBTS8Joubert syndrome caused by mutation in ARL13BJoubert syndrome type 8