hydrolethalus syndrome 1
Findings
No curated finding names hydrolethalus syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009365), read 2026-09-29. CC BY 4.0.
- Onset and course
- Stillbirth
HPO, annotations 2026-09-02
Features
22 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.
- MicrognathiaHPOHP:0000347
- 56 of 56 reported patients
- PolyhydramniosHPOHP:0001561
- 51 of 56 reported patients
- Midline defect of the noseHPOHP:0004122
- 50 of 56 reported patients
- MicrophthalmiaHPOHP:0000568
- 49 of 56 reported patients
- Severe hydrocephalusHPOHP:0006882
- 47 of 56 reported patients · Congenital onset
- Tracheal stenosisHPOHP:0002777
- 29 of 38 reported patients
- Cleft in skull baseHPOHP:0009752
Show the remaining 10
- Postaxial hand polydactylyHPOHP:0001162
- 29 of 56 reported patients
- Talipes equinovarusHPOHP:0001762
- 27 of 56 reported patients
- AnencephalyHPOHP:0002323
- 3 of 56 reported patients
- Abnormal vagina morphologyHPOHP:0000142
- Agenesis of corpus callosumHPOHP:0001274
- Bifid noseHPOHP:0011803
- Cleft palateHPOHP:0000175
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.
- HYLS1HGNC:26558
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Natera · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: hydrolethalus syndrome 1
- Also called
- hydrolethalus syndrome caused by mutation in HYLS1hydrolethalus syndrome type 1HYLS1 hydrolethalus syndrome