Joubert syndrome 1
MONDO:0008944Mondo
Findings
No curated finding names Joubert syndrome 1 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 INPP5E gene.
Definition from the Mondo Disease Ontology (MONDO:0008944), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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
- 8 of 8 reported patients
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
Show the remaining 7
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- Hepatic fibrosisHPOHP:0001395
- 2 of 7 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 7 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 7 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.
- INPP5EHGNC:21474
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
7 names
Resolves to: Joubert syndrome 1
- Also called
- cerebellooculorenal syndrome 1CORS1CPD4INPP5E Joubert syndromeJBTS1Joubert syndrome caused by mutation in INPP5EJoubert syndrome type 1