Meckel syndrome, type 2
MONDO:0011296Mondo
Findings
No curated finding names Meckel syndrome, type 2 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 TMEM216 gene.
Definition from the Mondo Disease Ontology (MONDO:0011296), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
15 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.
- Renal cystHPOHP:0000107
- 10 of 10 reported patients
- Bile duct proliferationHPOHP:0001408
- 6 of 7 reported patients
- PolydactylyHPOHP:0010442
- 6 of 8 reported patients
- EncephaloceleHPOHP:0002084
- 5 of 9 reported patients
- MeningoceleHPOHP:0002435
- 5 of 9 reported patients
- Bowing of the long bonesHPOHP:0006487
- 4 of 8 reported patients
- Cleft palateHPOHP:0000175
Show the remaining 3
- Dandy-Walker malformationHPOHP:0001305
- 1 of 9 reported patients
- MicrophthalmiaHPOHP:0000568
- 1 of 9 reported patients
- Postaxial hand polydactylyHPOHP:0001162
Where it sits
Other names
4 names
Resolves to: Meckel syndrome, type 2
- Also called
- Meckel syndrome caused by mutation in TMEM216Meckel-Gruber syndrome, type 2MKS2TMEM216 Meckel syndrome