X-linked spondyloepimetaphyseal dysplasia
MONDO:0010248Mondo
Findings
No curated finding names X-linked spondyloepimetaphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked form of spondyloepimetaphyseal dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0010248), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- BrachydactylyHPOHP:0001156
- 9 of 9 reported patients
- Genu varumHPOHP:0002970
- 9 of 9 reported patients
- PlatyspondylyHPOHP:0000926
- 3 of 3 reported patients
- Waddling gaitHPOHP:0002515
- 9 of 9 reported patients
- Lumbar hyperlordosisHPOHP:0002938
- 7 of 8 reported patients
- Joint hypermobilityHPOHP:0001382
- 5 of 9 reported patients
- Abnormal facial shapeHPOHP:0001999
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.
- BGNHGNC:1044
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · G2P · X-linked · 2016
- Supportive · Orphanet · X-linked · 2021
- Limited · Ambry Genetics · X-linked · 2018
- Limited · Ambry Genetics · X-linked · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: X-linked spondyloepimetaphyseal dysplasia
- Also called
- spondyloepimetaphyseal dysplasia, X-linkedspondyloepimetaphyseal dysplasia, X-linked, X-linked recessive