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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.
|Increased cup-to-disc ratio|
|Deep cerebral white matter hyperdensities|
|Ciliary body coloboma|
|Increased urinary cortisol level|
|Medium chain dicarboxylic aciduria|
|Decreased liver function|
|Distal renal tubular acidosis|
|Abnormality of the eye|
|Cutis gyrata of scalp|
|Muscular hypotonia of the trunk|
|Autosomal dominant inheritance|
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