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Syndromes affecting vision with intellectual disability

Norrie disease – NDP

December 8, 2020

Knobloch syndrome – COL18A1

December 8, 2020

Lowe syndrome – OCRL

December 8, 2020

Kaufman oculocerebrofacial syndrome – UBE3B

December 8, 2020

Kahrizi syndrome – SRD5A3

December 8, 2020

Optic atrophy with or without ataxia, mental retardation, and seizures – RTN4IP1

December 8, 2020

Peter’s plus syndrome – B3GLCT

December 8, 2020

Congenital cataracts, hearing loss, and neurodegeneration – SLC33A1

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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