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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1188
This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.
It has been described in two families.
The clinical picture is similar to that seen in Richards-Rundle syndrome (see this term).
Transmission may be X-linked recessive.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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