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We don’t have a description for this disease, disorder, or syndrome yet.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Aortic valve stenosis|
|Progressive truncal ataxia|
|Reduced red cell pyruvate kinase activity|
|Abnormal onset of bleeding|
|Severe short stature|
|Autosomal recessive inheritance|
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