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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.
|Generalized clonic seizures|
|Aortic valve stenosis|
|Short third metatarsal|
|Aplasia/Hypoplasia involving the carpal bones|
|Severe intrauterine growth retardation|
|Autosomal recessive inheritance|
|Death in infancy|
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