There are 5,000-8,000 known rare diseases which when combined are estimated to affect up to 6-8 per cent of the population. Rare diseases are a public health priority. In WA, they collectively affect up to 190,000 people, including 63,000 children. In this article Dr Gareth Baynam presents a case study of a young girl with developmental delay as she is taken through the diagnostic process. he provides practical tips on how to shorten the diagnostic odyssey.

Red Flags for Genetic and Rare Disease

• Listing ID: 7414

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 https://gardn.org.au/health-professionals/red-flags-genetic-rare-disease/