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brachydactyly-nystagmus-cerebellar ataxia syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.
Mondo Term and Equivalent IDs
MONDO:0007226:  brachydactyly-nystagmus-cerebellar ataxia syndrome
GARD:0000881: 
GARD:0000971: 
MESH:C566192: 
Orphanet:1246: 
SCTID:205828009: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found