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cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Disease Summary
Associated Targets (4)
Tbio

4


Mondo Description Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.
Uniprot Description A congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures.
Mondo Term and Equivalent IDs
MONDO:0024542:  cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
UMLS:CN074243: