meckel syndrome 14
MONDO:0030819Mondo
Findings
No curated finding names meckel syndrome 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Second trimester onset · Late first trimester onset
HPO, annotations 2026-09-02
Features
32 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.
- Abdominal distentionHPOHP:0003270
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Bowing of the long bonesHPOHP:0006487
- 1 of 1 reported patient
- Decreased calvarial ossificationHPOHP:0005474
- 1 of 1 reported patient
- HoloprosencephalyHPOHP:0001360
- 1 of 1 reported patient
- Increased nuchal translucencyHPOHP:0010880
- 1 of 1 reported patient
- Occipital encephaloceleHPOHP:0002085
- 6 of 6 reported patients
- Polycystic kidney dysplasiaHPOHP:0000113
- 6 of 6 reported patients
- Postaxial foot polydactylyHPOHP:0001830
- 1 of 1 reported patient
- Postaxial hand polydactylyHPOHP:0001162
- 1 of 1 reported patient
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- Short neckHPOHP:0000470
- 1 of 1 reported patient
Show the remaining 20
- Single ventricleHPOHP:0001750
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 3 of 4 reported patients
- Postaxial polydactylyHPOHP:0100259
- 3 of 4 reported patients
- HypertelorismHPOHP:0000316
- 3 of 5 reported patients
- Aplasia of the uterusHPOHP:0000151
- 2 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 4 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.
- TXNDC15HGNC:20652
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: meckel syndrome 14
- Also called
- MKS14