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Neurological conditions

Joubert Syndrome – AHI1 ARL13B CC2D2A CEP290 CEP41 CPLANE1 CSPP1 INPP5E KIF7 NPHP1 OFD1 RPGRIP1L TCTN2 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67

December 8, 2020

Parkinson disease, juvenile-onset – DNAJC6 FBXO7 PLA2G6 ATP13A2

December 8, 2020

Polymicrogyria – ADGRG1 RTTN TUBA8

December 8, 2020

Encephalopathy, progressive – BSCL2 TBCD NAXE

December 8, 2020

Cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ) – WDR81 ATP8A2

December 8, 2020

Septooptic dysplasia – HESX1

December 8, 2020

Moyamoya disease – GUCY1A1

December 8, 2020

Spastic ataxia – KIF1C MARS2 NKX6-2 SACS

December 8, 2020

Neurodegeneration with brain iron accumulation – C19orf12 PANK2 PLA2G6

December 8, 2020

Neurodegeneration due to cerebral folate transport deficiency – FOLR1

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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