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Review
. 1991 Dec;28(12):884-5.
doi: 10.1136/jmg.28.12.884.

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy

J H Begeer  1 , F A Scholte, A J van Essen
Affiliations
Review

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy

J H Begeer et al. J Med Genet. 1991 Dec.

Abstract

Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.

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