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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.
|Overgrowth of external genitalia|
|Aplasia of the ulna|
|Aortic valve stenosis|
|Bilateral single transverse palmar creases|
|Abnormal enchondral ossification|
|Endopolyploidy on chromosome studies of bone marrow|
|Autosomal recessive inheritance|
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