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Genetic Conditions

Donnai-Barrow syndrome – LRP2

December 8, 2020

Developmental delay with short stature, dysmorphic features, and sparse hair – DPH1

December 8, 2020

De Sanctis-Cacchione syndrome – ERCC6

December 8, 2020

Cowchock syndrome – AIFM1

December 8, 2020

Coffin-Lowry syndrome – RPS6KA3

December 8, 2020

Cerebrooculofacioskeletal syndrome (COFS) – ERCC2 ERCC6

December 8, 2020

Cohen syndrome – VPS13B

December 8, 2020

Cockayne Syndrome – ERCC4 ERCC5 ERCC6 ERCC8

December 8, 2020

COACH syndrome – CC2D2A RPGRIP1L TMEM67

December 8, 2020

CHIME syndrome – PIGL

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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