hennekam lymphangiectasia-lymphedema syndrome 3
MONDO:0032564Mondo
Findings
No curated finding names hennekam lymphangiectasia-lymphedema syndrome 3 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
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.
- Hydrocele testisHPOHP:0000034
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- LymphedemaHPOHP:0001004
- 2 of 2 reported patients · Congenital onset
- PolyhydramniosHPOHP:0001561
- 2 of 2 reported patients
- Protein-losing enteropathyHPOHP:0002243
- 2 of 2 reported patients
- StrabismusHPOHP:0000486
- 2 of 2 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
- Flat faceHPOHP:0012368
- 1 of 2 reported patients
- MigraineHPOHP:0002076
- 1 of 2 reported patients
- Spontaneous pneumothoraxHPOHP:0002108
- 1 of 2 reported patients
- SynophrysHPOHP:0000664
- 1 of 2 reported patients
Show the remaining 1
- Upslanted palpebral fissureHPOHP:0000582
- 1 of 2 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:219HGNC:219
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of