Joubert syndrome 10
MONDO:0010431Mondo
Findings
No curated finding names Joubert syndrome 10 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 OFD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010431), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
28 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
- 2 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 2 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 1 of 1 reported patient
- Decreased body weightHPOHP:0004325
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- Frequent temper tantrumsHPOHP:0025161
Show the remaining 16
- PolyphagiaHPOHP:0002591
- 1 of 1 reported patient
- Recurrent feverHPOHP:0001954
- 1 of 1 reported patient
- Recurrent infectionsHPOHP:0002719
- 9 of 9 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 9 of 9 reported patients
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Tube feedingHPOHP:0033454
- 2 of 2 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.
- OFD1HGNC:2567
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2019
Where it sits
Other names
5 names
Resolves to: Joubert syndrome 10
- Also called
- JBTS10Joubert syndrome 10, X-linked recessiveJoubert syndrome caused by mutation in OFD1Joubert syndrome type 10OFD1 Joubert syndrome