spondyloepimetaphyseal dysplasia, Isidor-Toutain type
MONDO:0032885Mondo
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Isidor-Toutain type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
12 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.
- Coxa varaHPOHP:0002812
- 4 of 4 reported patients
- Genu varumHPOHP:0002970
- 4 of 4 reported patients
- PlatyspondylyHPOHP:0000926
- 4 of 4 reported patients
- Severe short statureHPOHP:0003510
- 4 of 4 reported patients
- Short long boneHPOHP:0003026
- 4 of 4 reported patients
- ScoliosisHPOHP:0002650
- 1 of 4 reported patients
- AnemiaHPOHP:0001903
- 0 of 4 reported patients
- Enlarged metaphysesHPOHP:0003051
- Irregular femoral epiphysisHPOHP:0006361
- Lower-limb metaphyseal irregularityHPOHP:0030291
- Postnatal growth retardationHPOHP:0008897
- Infantile onset
- Upper-limb metaphyseal irregularityHPOHP:0003850
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.
- RPL13HGNC:10303
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2019
- Limited · G2P · Autosomal dominant · 2019
Where it sits
- A kind of