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Neurodegenerative conditions

Neurodegeneration due to cerebral folate transport deficiency – FOLR1

December 8, 2020

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset – SQSTM1

December 8, 2020

PEHO syndrome – ZNHIT3

December 8, 2020

Infantile cerebellar-retinal degeneration – ACO2

December 8, 2020

Infantile neuroaxonal dystrophy 1 – PLA2G6

December 8, 2020

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly – SLC1A4

December 8, 2020

Troyer syndrome – SPG20

December 8, 2020

Neuronal ceroid lipofuscinoses – CLN3 CLN5 CLN6 CLN8 CTSD CTSF MFSD8 PPT1 TPP1

December 8, 2020

Parkinson disease, juvenile-onset – DNAJC6 FBXO7 PLA2G6 ATP13A2

December 8, 2020

Encephalopathy, progressive – BSCL2 TBCD NAXE

December 8, 2020

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Royal Children’s Hospital
Flemington Road, Parkville, VIC 3052
P (03) 8341 6315 E info@gsnv.org.au

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