VACTERL association, X-linked, with or without hydrocephalus
MONDO:0010752Mondo
Findings
No curated finding names VACTERL association, X-linked, with or without hydrocephalus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Neonatal death · Third trimester onset
HPO, annotations 2026-09-02
Features
9 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.
- Absence of stomach bubble on fetal sonographyHPOHP:0010963
- 1 of 1 reported patient · Third trimester onset
- Anal atresiaHPOHP:0002023
- 1 of 1 reported patient
- DextrocardiaHPOHP:0001651
- 1 of 1 reported patient
- Esophageal atresiaHPOHP:0002032
- 1 of 1 reported patient
- Laryngeal atresiaHPOHP:0008750
- 1 of 1 reported patient
- Persistent left superior vena cavaHPOHP:0005301
- 1 of 1 reported patient
- PolyhydramniosHPOHP:0001561
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 1 of 1 reported patient
- Sacral dimpleHPOHP:0000960
- 1 of 1 reported patient
Genes
2 genes
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.
Where it sits
Other names
1 name
Resolves to: VACTERL association, X-linked, with or without hydrocephalus
- Also called
- VACTERL association, X-linked, X-linked recessive