Joubert syndrome 22
MONDO:0014297Mondo
Findings
No curated finding names Joubert syndrome 22 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 PDE6D gene.
Definition from the Mondo Disease Ontology (MONDO:0014297), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Agenesis of cerebellar vermisHPOHP:0002335
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Molar tooth sign on MRIHPOHP:0002419
- 11 of 11 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 1 of 1 reported patient
- Postaxial foot polydactylyHPOHP:0001830
- 11 of 11 reported patients
- Temporal cortical atrophyHPO
Show the remaining 3
- Abnormal facial shapeHPOHP:0001999
- Intrauterine growth retardationHPOHP:0001511
- Antenatal onset
- Retinal dysplasiaHPOHP:0007973
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.
- PDE6DHGNC:8788
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 22
- Also called
- JBTS22Joubert syndrome caused by mutation in PDE6DJoubert syndrome type 22PDE6D Joubert syndrome