lymphatic malformation 7
MONDO:0015009Mondo
Findings
No curated finding names lymphatic malformation 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- LymphedemaHPOHP:0001004
- 11 of 11 reported patients
- Pleural effusionHPOHP:0002202
- 6 of 9 reported patients
- ChylothoraxHPOHP:0010310
- 6 of 10 reported patients
- Atrial septal defectHPOHP:0001631
- 6 of 11 reported patients
- Nonimmune hydrops fetalisHPOHP:0001790
- 6 of 11 reported patients
- Varicose veinsHPOHP:0002619
- 3 of 8 reported patients
- AnemiaHPOHP:0001903
- 3 of 10 reported patients
- AscitesHPOHP:0001541
- 2 of 10 reported patients
- Increased nuchal translucencyHPOHP:0010880
- 2 of 11 reported patients · Late first trimester onset
- Pericardial effusionHPOHP:0001698
- 1 of 9 reported patients
- Respiratory distressHPOHP:0002098
- 1 of 10 reported patients
- EdemaHPOHP:0000969
Show the remaining 1
- Facial edemaHPOHP:0000282
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.
- EPHB4HGNC:3395
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: lymphatic malformation 7
- Also called
- HFASDhydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility tohydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD