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multiple congenital abnormalities plus intellectual disability

Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy – IARS

December 8, 2020

XFE progeroid syndrome – ERCC4

December 8, 2020

Immunoskeletal dysplasia with neurodevelopmental abnormalities – EXTL3

December 8, 2020

Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) – IARS2

December 8, 2020

Desmosterolosis – DHCR24

December 8, 2020

Infantile liver failure syndrome – LARS

December 8, 2020

Carey-Fineman-Ziter syndrome – MYMK

December 8, 2020

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies – OTUD6B

December 8, 2020

Cerebellofaciodental syndrome – BRF1

December 8, 2020

Intellectual developmental disorder with cardiac arrhythmia – GNB5

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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