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Severe

Meckel syndrome – CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L TMEM216 TMEM231 TMEM67

December 8, 2020

Fetal akinesia deformation sequence – RAPSN

December 8, 2020

Ventriculomegaly with cystic kidney disease – CRB2

December 8, 2020

Hydrolethalus syndrome – HYLS1 KIF7

December 8, 2020

TARP syndrome – RBM10

December 8, 2020

Lethal congenital contracture syndrome – CNTNAP1 ERBB3 GLE1 GLDN PIP5K1C

December 8, 2020

Sudden infant death with dysgenesis of the testes syndrome – TSPYL1

December 8, 2020

Rigidity and multifocal seizure syndrome, lethal neonatal – BRAT1

December 8, 2020

Bowen-Conradi syndrome – EMG1

December 8, 2020

Alkuraya-Kucinskas syndrome – KIAA1109

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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