Joubert syndrome 38
MONDO:0030353Mondo
Findings
No curated finding names Joubert syndrome 38 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 2 reported patients
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- 2 of 2 reported patients
- Ectopic posterior pituitaryHPOHP:0011755
- 2 of 2 reported patients
- EpicanthusHPOHP:0000286
- 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
- Oculomotor apraxiaHPOHP:0000657
- 2 of 2 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 2 of 2 reported patients
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 1 of 2 reported patients
- Downturned corners of mouthHPOHP:0002714
- 1 of 2 reported patients
- EsotropiaHPOHP:0000565
- 1 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
Show the remaining 8
- HypermetropiaHPOHP:0000540
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Inferior cerebellar vermis hypoplasiaHPOHP:0007068
- 1 of 2 reported patients
- Low-set earsHPOHP:0000369
- 1 of 2 reported patients
- Prominent foreheadHPOHP:0011220
- 1 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 2 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: Joubert syndrome 38
- Also called
- JBTS38