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cerebellar ataxia, intellectual disability, and dysequilibrium

Disease Summary
Associated Targets (4)
Tbio

4


Explore Associated Targets
Mondo Description A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.
Disease Ontology Description An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
Mondo Term and Equivalent IDs
MONDO:0009133:  cerebellar ataxia, intellectual disability, and dysequilibrium
GARD:0001998: 
MESH:C535731: 
NCIT:C114781: 
OMIMPS:224050: 
Orphanet:1766: 
SCTID:230782004: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)