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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1246
Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.
It has been described in four generations of a family.
Visit the Orphanet disease page for more resources.
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.
|Olfactory lobe agenesis|
|Ectopic ossification in muscle tissue|
|Increased urinary cortisol level|
|Inferior vermis hypoplasia|
|Severe generalized osteoporosis|
|Autosomal dominant inheritance|
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