lymphatic malformation 13
MONDO:0859379Mondo
Findings
No curated finding names lymphatic malformation 13 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
- Neonatal death · Antenatal onset · Second trimester onset
HPO, annotations 2026-09-02
Features
23 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.
- AscitesHPOHP:0001541
- 5 of 5 reported patients
- Cavernous hemangiomaHPOHP:0001048
- 1 of 1 reported patient
- Chronic lung diseaseHPOHP:0006528
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Nonimmune hydrops fetalisHPOHP:0001790
- 10 of 10 reported patients · Antenatal onset
- 5 of 5 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 1 reported patient
- Retinopathy of prematurityHPOHP:0500049
- 1 of 1 reported patient
- Single umbilical arteryHPOHP:0001195
- 1 of 1 reported patient
- Unilateral deafnessHPOHP:0009900
- 1 of 1 reported patient
- Fetal pleural effusionHPOHP:0025676
- 4 of 5 reported patients
- HemangiomaHPOHP:0001028
- 4 of 5 reported patients
- Atrial septal defectHPOHP:0001631
- 3 of 5 reported patients
Show the remaining 11
- Hydrocele testisHPOHP:0000034
- 3 of 5 reported patients
- HypertelorismHPOHP:0000316
- 3 of 6 reported patients
- Mitral regurgitationHPOHP:0001653
- 2 of 4 reported patients
- Patent foramen ovaleHPOHP:0001655
- 2 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 5 reported patients
- Long philtrumHPOHP:0000343
- 2 of 5 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.
- HGNC:17754HGNC:17754
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of