Meckel syndrome, type 9
MONDO:0013630Mondo
Findings
No curated finding names Meckel syndrome, type 9 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 B9D1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013630), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late first trimester onset
HPO, annotations 2026-09-02
Features
7 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.
- Abnormal posterior cranial fossa morphologyHPOHP:0000932
- 1 of 1 reported patient
- Ambiguous genitaliaHPOHP:0000062
- 1 of 1 reported patient
- Limb undergrowthHPOHP:0009826
- 1 of 1 reported patient
- Multicystic kidney dysplasiaHPOHP:0000003
- 1 of 1 reported patient
- Occipital encephaloceleHPOHP:0002085
- 1 of 1 reported patient
- Sonographic non-visualized fetal bladderHPOHP:0034217
- 1 of 1 reported patient
- Talipes equinovarusHPO
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.
- B9D1HGNC:24123
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Meckel syndrome, type 9
- Also called
- B9D1 Meckel syndromemeckel syndrome 9Meckel syndrome caused by mutation in B9D1