Joubert syndrome 3
MONDO:0012078Mondo
Findings
No curated finding names Joubert syndrome 3 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 AHI1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012078), 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.
- AtaxiaHPOHP:0001251
- 4 of 4 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 4 of 4 reported patients
- Frontal polymicrogyriaHPOHP:0006821
- 3 of 4 reported patients
- Thin corpus callosumHPOHP:0033725
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.
- AHI1HGNC:21575
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Joubert syndrome 3
- Also called
- AHI1 Joubert syndromeJBTS3Joubert syndrome caused by mutation in AHI1Joubert syndrome type 3