Meckel syndrome, type 8
MONDO:0013482Mondo
Findings
No curated finding names Meckel syndrome, type 8 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 TCTN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013482), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
22 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.
- EncephaloceleHPOHP:0002084
- 5 of 5 reported patients
- PolydactylyHPOHP:0010442
- 5 of 5 reported patients
- Occipital encephaloceleHPOHP:0002085
- 3 of 5 reported patients
- Abdominal distentionHPOHP:0003270
- 2 of 5 reported patients
- Polycystic kidney dysplasiaHPOHP:0000113
- 2 of 5 reported patients
- Ambiguous genitaliaHPOHP:0000062
- 1 of 5 reported patients
- AnhydramniosHPOHP:0025700
Show the remaining 10
- Enlarged kidneyHPOHP:0000105
- 1 of 5 reported patients
- Hyperechogenic kidneysHPOHP:0004719
- 1 of 5 reported patients
- Low-set earsHPOHP:0000369
- 1 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 5 reported patients
- MicrophthalmiaHPOHP:0000568
- 1 of 5 reported patients
- Narrow chestHPOHP:0000774
- 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.
- TCTN2HGNC:25774
- Definitive · LiferaOmics · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Meckel syndrome, type 8
- Also called
- Meckel syndrome caused by mutation in TCTN2MKS8TCTN2 Meckel syndrome