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Definition

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.

Acronym

CAMRQ1

Synonyms

Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1
Cerebellar hypoplasia VLDLR-associated
Congenital cerebellar ataxia and mental retardation autosomal recessive
DES
Dysequilibrium syndrome

Keywords

Mental retardation

 
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