Joubert syndrome 37
MONDO:0030933Mondo
Findings
No curated finding names Joubert syndrome 37 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
- Infantile onset · Fetal onset
HPO, annotations 2026-09-02
Features
34 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 4 of 5 reported patients
- Decreased testicular sizeHPOHP:0008734
- 2 of 4 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 5 reported patients
- Deeply set eyeHPOHP:0000490
- 2 of 5 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 5 reported patients
- HypertelorismHPOHP:0000316
- 2 of 5 reported patients
- Low-set earsHPOHP:0000369
- 2 of 5 reported patients
- Postaxial polydactylyHPOHP:0100259
- 2 of 5 reported patients
- Wide intermamillary distanceHPOHP:0006610
- 2 of 5 reported patients
- Wide nasal bridgeHPOHP:0000431
- 2 of 5 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 4 reported patients
Show the remaining 22
- MicropenisHPOHP:0000054
- 1 of 4 reported patients
- Absent speechHPOHP:0001344
- 1 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 5 reported patients
- Broad neckHPOHP:0000475
- 1 of 5 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 5 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 5 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.
- TOGARAM1HGNC:19959
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Joubert syndrome 37
- Also called
- JBTS37