Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.

Abstract

We describe a familial mental retardation syndrome in a 30 year old, moderately mentally retarded female and her 59 year old maternal aunt. Both presented the distinct association of (1)...