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.
|Periosteal thickening of long tubular bones|
|Limb-girdle muscle weakness|
|Aortic valve stenosis|
|Stippled calcification proximal humeral epiphyses|
|Abnormality of the face|
|Generalized bone demineralization|
|Autosomal recessive inheritance|
|Joint contracture of the hand|
|Patent ductus arteriosus|
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