Joubert syndrome 36
MONDO:0032902Mondo
Findings
No curated finding names Joubert syndrome 36 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
14 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
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Mesoaxial hand polydactylyHPOHP:0006159
- 4 of 4 reported patients
- PtosisHPOHP:0000508
- 4 of 4 reported patients
- StrabismusHPOHP:0000486
- 4 of 4 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 2 of 4 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 4 reported patients
- Highly arched eyebrowHPOHP:0002553
- 1 of 4 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 4 reported patients
- Open mouthHPOHP:0000194
- 1 of 4 reported patients
- Pectus carinatumHPOHP:0000768
- 1 of 4 reported patients
- Prominent foreheadHPOHP:0011220
- 1 of 4 reported patients
Show the remaining 2
- SeizureHPOHP:0001250
- 1 of 4 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 4 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.
- FAM149B1HGNC:29162
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of