Joubert syndrome 35
MONDO:0032570Mondo
Findings
No curated finding names Joubert syndrome 35 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
25 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
- 4 of 4 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 4 of 4 reported patients
- Elongated superior cerebellar peduncleHPOHP:0011933
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 4 of 4 reported patients
- NyctalopiaHPOHP:0000662
- 4 of 4 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 4 of 4 reported patients
- Abnormality of temperature regulationHPOHP:0004370
- 2 of 4 reported patients
- Recurrent urinary tract infectionsHPOHP:0000010
- 2 of 4 reported patients
- HydronephrosisHPOHP:0000126
- 1 of 4 reported patients
- Multicystic kidney dysplasiaHPOHP:0000003
- 1 of 4 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 1 of 4 reported patients
Show the remaining 13
- Pectus carinatumHPOHP:0000768
- 1 of 4 reported patients
- PtosisHPOHP:0000508
- 1 of 4 reported patients
- Renal fibrosisHPOHP:0030760
- 1 of 4 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 1 of 4 reported patients
- Sleep apneaHPOHP:0010535
- 1 of 4 reported patients
- Anteverted naresHPOHP:0000463
- Depressed nasal bridgeHPO
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.
- ARL3HGNC:694
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of