Joubert syndrome 21
MONDO:0014288Mondo
Findings
No curated finding names Joubert syndrome 21 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014288), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 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
- 19 of 19 reported patients
- PtosisHPOHP:0000508
- 15 of 18 reported patients
- NystagmusHPOHP:0000639
- 6 of 18 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 4 of 18 reported patients
- Bell-shaped thoraxHPOHP:0001591
- 4 of 19 reported patients
- HypertelorismHPOHP:0000316
- 4 of 19 reported patients
- Pulmonary hypoplasiaHPOHP:0002089
Show the remaining 6
- SeizureHPOHP:0001250
- 1 of 18 reported patients
- DysphagiaHPOHP:0002015
- 1 of 19 reported patients
- MegalopapillaHPOHP:0034302
- 1 of 19 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 19 reported patients
- SplenomegalyHPOHP:0001744
- 1 of 19 reported patients
- Elongated superior cerebellar peduncleHPOHP:0011933
- 0 of 10 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.
- CSPP1HGNC:26193
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: Joubert syndrome 21
- Also called
- CSPP1 Joubert syndromeJBTS21Joubert syndrome caused by mutation in CSPP1Joubert syndrome type 21