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Start free with EleplanCardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
ORPHA:664401Etiological subtype
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Inheritance
- Autosomal dominant
- Classified as
- Etiological subtype
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Age of onset
- Infancy, NeonatalCardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Gene
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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