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. Author manuscript; available in PMC: 2009 Jul 1.
Published in final edited form as: J Inherit Metab Dis. 2009 Jan 28;32(3):343–352. doi: 10.1007/s10545-009-1034-y

Table 3.

Clinical phenotype in adolescent and adult patients (N= 35)

n %
Intellectual disability 35 100%
Ataxia 26 74%
Seizures 20 57%
Hypotonia 31 89%
Sleep disturbances 19 54%