hypotrichosis-lymphedema-telangiectasia syndrome
MONDO:0011914Mondo
Findings
No curated finding names hypotrichosis-lymphedema-telangiectasia syndrome 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
- Infantile onset · Childhood onset · Third trimester 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.
- Absent eyebrowHPOHP:0002223
- 4 of 4 reported patients
- Absent eyelashesHPOHP:0000561
- 4 of 4 reported patients
- Hydrocele testisHPOHP:0000034
- 2 of 2 reported patients · Male
- Sparse scalp hairHPOHP:0002209
- 4 of 4 reported patients
- Predominantly lower limb lymphedemaHPOHP:0003550
- 3 of 4 reported patients
- Palmar telangiectasiaHPOHP:0100869
- 2 of 4 reported patients
- Thin skinHPOHP:0000963
- 2 of 4 reported patients
- AlopeciaHPOHP:0001596
- 1 of 4 reported patients
- Palpebral edemaHPOHP:0100540
- 1 of 4 reported patients
- Nonimmune hydrops fetalisHPOHP:0001790
- 1 of 5 reported patients
- Abnormal nail morphologyHPOHP:0001597
- 0 of 5 reported patients
- Abnormal sweat gland morphologyHPOHP:0000971
- 0 of 5 reported patients
Show the remaining 1
- Abnormality of the dentitionHPOHP:0000164
- 0 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.
- SOX18HGNC:11194
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019