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Syndromes with multiple abnormalities

GAPO syndrome – ANTXR1

December 8, 2020

HELIX syndrome – CLDN10

December 8, 2020

Haim-Munk syndrome – CTSC

December 8, 2020

Laryngoonychocutaneous syndrome – LAMA3

December 8, 2020

Miller syndrome – DHODH

December 8, 2020

Macrocephaly, alopecia, cutis laxa, and scoliosis – RIN2

December 8, 2020

Mandibuloacral dysplasia with type B lipodystrophy – ZMPSTE24

December 8, 2020

Dyskeratosis congenita – DKC1 RTEL1 PARN WRAP53

December 8, 2020

Lipodystrophy, congenital generalized – BSCL2 CAVIN1

December 8, 2020

Wolfram syndrome – CISD2 WFS1

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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