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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.
|Clinodactyly of the 5th toe|
|Flared radial metaphysis|
|Hypoplasia of proximal fibula|
|Aortic valve stenosis|
|Congenital absence of gluteal muscles|
|Exaggerated cupid's bow|
|Posterior cortical cataract|
|Reduced pancreatic beta cells|
|Abnormal respiratory motile cilium morphology|
|Autosomal recessive inheritance|
|Obstructive lung disease|
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