Meckel syndrome, type 4
MONDO:0012626Mondo
Findings
No curated finding names Meckel syndrome, type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.
Definition from the Mondo Disease Ontology (MONDO:0012626), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Agenesis of cerebellar vermisHPOHP:0002335
- Atrial septal defectHPOHP:0001631
- Dandy-Walker malformationHPOHP:0001305
- Hypoplasia of the corpus callosumHPOHP:0002079
- Ventricular septal defectHPOHP:0001629
Where it sits
Other names
4 names
Resolves to: Meckel syndrome, type 4
- Also called
- CEP290 Meckel syndromeMeckel syndrome caused by mutation in CEP290Meckel-Gruber syndrome, type 4MKS4