Ehlers-Danlos syndrome, musculocontractural type 2
Findings
No curated finding names Ehlers-Danlos syndrome, musculocontractural type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.
Definition from the Mondo Disease Ontology (MONDO:0014236), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
19 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.
- Adducted thumbHPOHP:0001181
- 1 of 1 reported patient
- ArachnodactylyHPOHP:0001166
- 1 of 1 reported patient
- Atrophic scarsHPOHP:0001075
- 1 of 1 reported patient
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 1 reported patient · Congenital onset
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Dental crowdingHPOHP:0000678
Show the remaining 7
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- Patent foramen ovaleHPOHP:0001655
- 1 of 1 reported patient
- Persistent open anterior fontanelleHPOHP:0004474
- 1 of 1 reported patient
- Poor wound healingHPOHP:0001058
- 1 of 1 reported patient
- Protruding earHPOHP:0000411
- 1 of 1 reported patient
- TelecanthusHPOHP:0000506
- 1 of 1 reported patient
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.
- DSEHGNC:21144
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: Ehlers-Danlos syndrome, musculocontractural type 2
- Also called
- DSE Ehlers-Danlos syndrome, musculocontractural typeEhlers-Danlos syndrome, musculocontractural type caused by mutation in DSE