spondyloepimetaphyseal dysplasia with joint laxity, type 3
MONDO:0032724Mondo
Findings
No curated finding names spondyloepimetaphyseal dysplasia with joint laxity, type 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
11 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.
- Carpal bone hypoplasiaHPOHP:0001498
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed ossification of carpal bonesHPOHP:0001216
- 2 of 2 reported patients
- Dislocated radial headHPOHP:0003083
- 2 of 2 reported patients
- Hip dislocationHPOHP:0002827
- 2 of 2 reported patients · Congenital onset
- Irregular vertebral endplatesHPOHP:0003301
- 2 of 2 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 2 reported patients
- Knee dislocationHPOHP:0004976
- 2 of 2 reported patients · Congenital onset
- Narrow vertebral interpedicular distanceHPOHP:0008450
- 2 of 2 reported patients
- Patellar dislocationHPOHP:0002999
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 2 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.
- EXOC6BHGNC:17085
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: spondyloepimetaphyseal dysplasia with joint laxity, type 3
- Also called
- SEMDJL3spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type