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White matter disorders

Pelizaeus-Merzbacher disease – PLP1

December 8, 2020

Leukodystrophy, hypomyelinating – AIMP1 FAM126A GJC2 HSPD1 POLR3A POLR3B PYCR2 RARS UFM1 VPS11

December 8, 2020

Leukoencephalopathy with ataxia – CLCN2

December 8, 2020

Leukoencephalopathy with vanishing white matter – EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

December 8, 2020

Leukoencephalopathy, brain calcifications, and cysts – SNORD118

December 8, 2020

Leukoencephalopathy, cystic, without megalencephaly – RNASET2

December 8, 2020

Megalencephalic leukoencephalopathy with subcortical cysts – HEPACAM MLC1

December 8, 2020

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) – DARS

December 8, 2020

Adrenoleukodystrophy – ABCD1

December 8, 2020

Aicardi-Goutieres syndrome – ADAR RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1

December 8, 2020

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

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