Joubert syndrome 40
MONDO:0030462Mondo
Findings
No curated finding names Joubert syndrome 40 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
10 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.
- Almond-shaped palpebral fissureHPOHP:0007874
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Postaxial polydactylyHPOHP:0100259
- 5 of 5 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 3 of 4 reported patients
- Optic nerve hypoplasiaHPOHP:0000609
- 2 of 4 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: Joubert syndrome 40
- Also called
- JBTS40