Ehlers-Danlos syndrome, classic-like, 2
MONDO:0054813Mondo
Findings
No curated finding names Ehlers-Danlos syndrome, classic-like, 2 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 · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
89 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.
- Atrophic scarsHPOHP:0001075
- 3 of 3 reported patients
- Atypical scarring of skinHPOHP:0000987
- 2 of 2 reported patients
- Bruising susceptibilityHPOHP:0000978
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Cervical C2/C3 vertebral fusionHPOHP:0004602
- 1 of 1 reported patient
- Chronic fatigueHPOHP:0012432
- 1 of 1 reported patient
- Decreased dermal collagenHPOHP:0034943
- 2 of 2 reported patients
- Generalized joint hypermobilityHPOHP:0002761
- 4 of 4 reported patients
- Hallux valgusHPOHP:0001822
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- HammertoeHPOHP:0001765
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Hip dislocationHPOHP:0002827
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Hyperextensible skinHPOHP:0000974
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Intermittent claudicationHPOHP:0004417
- 1 of 1 reported patient
Show the remaining 77
- Joint hypermobilityHPOHP:0001382
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Knee dislocationHPOHP:0004976
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Long uvulaHPOHP:0010810
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Low back painHPOHP:0003419
- 1 of 1 reported patient
- Molluscoid pseudotumorsHPOHP:0000993
- 1 of 1 reported patient
- OsteoarthritisHPOHP:0002758
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.
- AEBP1HGNC:303
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Ehlers-Danlos syndrome, classic-like, 2
- Also called
- EDSCLL2