Joubert syndrome 27
MONDO:0014927Mondo
Findings
No curated finding names Joubert syndrome 27 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 B9D1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014927), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 2 of 2 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 2 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
Show the remaining 3
- Thick lower lip vermilionHPOHP:0000179
- 1 of 2 reported patients
- Triangular faceHPOHP:0000325
- 1 of 2 reported patients
- PolydactylyHPOHP:0010442
- 0 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.
- B9D1HGNC:24123
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 27
- Also called
- B9D1 Joubert syndromeJBTS27Joubert syndrome caused by mutation in B9D1Joubert syndrome type 27