Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

PNPLA6, NT5E, HSP90B2P

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

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Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.