spondyloepimetaphyseal dysplasia, Guo-Campeau type
MONDO:0958006Mondo
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Guo-Campeau type 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 · Antenatal onset
HPO, annotations 2026-09-02
Features
57 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.
- AsthmaHPOHP:0002099
- 2 of 2 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Clinodactyly of the 2nd fingerHPOHP:0040022
- 1 of 1 reported patient
- Clinodactyly of the 3rd fingerHPOHP:0040024
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- Decreased hip abductionHPOHP:0003184
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Diaphyseal undertubulationHPOHP:0005019
- 1 of 1 reported patient
- Dislocated radial headHPOHP:0003083
- 2 of 2 reported patients
- DolichocephalyHPOHP:0000268
- 1 of 1 reported patient
Show the remaining 45
- Finger aplasiaHPOHP:0009380
- 1 of 1 reported patient
- Finger joint hypermobilityHPOHP:0006094
- 2 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Hip dislocationHPOHP:0002827
- 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.
- ERI1HGNC:23994
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of