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Richards-Rundle syndrome

Pronunciation: rich'ards run'del

Definition: a disorder beginning in early childhood with severe, progressive sensorineural hearing loss, ataxia, muscle wasting nystagmus, absent deep tendon reflexes, mental retardation, failure to develop secondary sexual characteristics, and ketoaciduria; autosomal recessive inheritance.

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.