even-plus syndrome
MONDO:0014801Mondo
Findings
No curated finding names even-plus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
24 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.
- Bifid nasal tipHPOHP:0000456
- 3 of 3 reported patients
- Coronal cleft vertebraeHPOHP:0003417
- 3 of 3 reported patients
- Depressed nasal ridgeHPOHP:0000457
- 3 of 3 reported patients
- MicrotiaHPOHP:0008551
- 3 of 3 reported patients
- SynophrysHPOHP:0000664
- 3 of 3 reported patients
- Anal atresiaHPOHP:0002023
- 2 of 3 reported patients
- Aplasia cutis congenitaHPOHP:0001057
- 2 of 3 reported patients
- Atrial septal defectHPOHP:0001631
- 2 of 3 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 3 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 1 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 3 reported patients
- Patent foramen ovaleHPOHP:0001655
- 1 of 3 reported patients
Show the remaining 12
- Vesicoureteral refluxHPOHP:0000076
- 1 of 3 reported patients
- CataractHPOHP:0000518
- 0 of 3 reported patients
- Dysplasia of the femoral headHPOHP:0010575
- Epiphyseal dysplasiaHPOHP:0002656
- High palateHPOHP:0000218
- Highly arched eyebrowHPOHP:0002553
- HypodontiaHPOHP:0000668
- Midface retrusionHPO
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.
- HSPA9HGNC:5244
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: even-plus syndrome
- Also called
- epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndromeEVPLS