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1 patient data entry in database for mutations A467T and R227W.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
Onset at 4 months with FTT, dementia, hypotonia, seizures, myoclonus, GI problems, hepatopathy, hearing loss, delayed myelinisation. Death at 10 months
-myoclonic seizures
-delayed myelination
-failure to thrive
-GI problems
-hearing loss
0.3n/a0.8de Vries et al, 2007;

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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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Mutations Entry IDs Clusters Reference Residue range
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
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