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1 patient data entry collated from reference de Vries et al, 2008.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
408G848S1
A467T2
Delayed motor and mental development, From the age of 3 years his psychomotor development declined and epilepsy, visual impairment and sensorineuronal deafness, epilepsia partialis continua. Bilateral ptosis, generalized hypotonia, ataxia, absent reflexes and hyperlaxity by age 5.
-epilepsy
-epilepsia partialis
-movement disorder (ataxia)
-ptosis
-hypotonic
infantile
53n/a

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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