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Understanding Rare Chromosome and Gene Disorders
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Unique

@unique_charity ·
11 Sep

We have a new guide on Houge-Janssens syndrome!
👀Take a look: https://rarechromo.org/media/singlegeneinfo/Single%20Gene%20Disorder%20Guides/Houge-Janssenssyndrome.pdf

Houge-Janssens syndrome is a rare genetic condition associated with neurodevelopmental delay, language delay, behavioural challenges, hypotonia, epilepsy and sleep difficulties.

Unique

@unique_charity ·
8 Sep

Meet Summer, she is diagnosed with a change in her HERC1 gene, a condition so rare she is only known to be one of eight in the world. Her family found ‘so much support from the unique community’.

Find out more about her and others in our little red book: https://rarechromo.org/little-red-book/

Unique

@unique_charity ·
7 Sep

Today is Duchenne Muscular Dystrophy (DMD) Awareness Day!

Did you know: Around 2,500 people are living with DMD in the UK, and 1 in 3,500
live male births are affected worldwide.

Learn more at @DuchenneUK's website: https://www.duchenneuk.org

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Site editor Sarah Wynn PhD
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