Meckel syndrome, type 10
MONDO:0013609Mondo
Findings
No curated finding names Meckel syndrome, type 10 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 B9D2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013609), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- 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.
- Bifid uvulaHPOHP:0000193
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- Dilated fourth ventricleHPOHP:0002198
- 1 of 1 reported patient
- HypospadiasHPOHP:0000047
- 1 of 1 reported patient · Male
- Malformation of the hepatic ductal plateHPOHP:0006563
Show the remaining 3
- Renal cystHPOHP:0000107
- 2 of 2 reported patients
- Ulnar deviation of the handHPOHP:0009487
- 1 of 1 reported patient
- AnencephalyHPOHP:0002323
- 1 of 2 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.
- B9D2HGNC:28636
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: Meckel syndrome, type 10
- Also called
- B9D2 Meckel syndromemeckel syndrome 10Meckel syndrome caused by mutation in B9D2