CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities.
C1847114
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5