Joubert syndrome 28
MONDO:0014928Mondo
Findings
No curated finding names Joubert syndrome 28 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 MKS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014928), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Fetal 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 2 of 2 reported patients
- Broad foreheadHPOHP:0000337
Show the remaining 6
- Optic disc pallorHPOHP:0000543
- 1 of 2 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 1 of 2 reported patients
- StrabismusHPOHP:0000486
- 1 of 2 reported patients
- Wide nasal bridgeHPOHP:0000431
- 1 of 2 reported patients
- DysarthriaHPOHP:0001260
- Intellectual disabilityHPOHP:0001249
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.
- MKS1HGNC:7121
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: Joubert syndrome 28
- Also called
- JBTS28Joubert syndrome caused by mutation in MKS1Joubert syndrome type 28MKS1 Joubert syndrome