help@rarechromo.org
Understanding Rare Chromosome and Gene Disorders

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Professionals

Resources & information for professionals working with those affected by Rare Chromosome and Gene Disorders....

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Donate

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Support Us

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Data Protection & Privacy Policy

...www.ico.org.uk Professionals We collect information from clinicians and other professionals such as social workers and researchers in order to register you as professional members, because you have contacted us or...

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Mental health & wellbeing

...Mind https://www.mind.org.uk/ Young Minds https://youngminds.org.uk/ Samaritans If you need to talk through your feelings call 08457 90 90 90 (open 24 hours a day, charges apply) or email jo@samaritans.org Carers...

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COVID-19 General Advice

...More information about the Covid-19 vaccination programme is available here: https://www.gov.uk/government/publications/priority-groups-for-coronavirus-covid-19-vaccination-advice-from-the-jcvi-30-december-2020/joint-committee-on-vaccination-and-immunisation-advice-on-priority-groups-for-covid-19-vaccination-30-december-2020#fn:3 Why you should register with your GP as a carer: https://www.carersuk.org/help-and-advice/health/looking-after-your-health/your-gp Unique’s Carers Wellbeing guide: https://www.rarechromo.org/practical-guides-for-families/ Guidance on shielding and protecting people...

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Families

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Gift ideas and useful websites

...in the UK. To order yours, go to rarechromo.org/html/DonateWP.aspselect Buying Merchandise and tell us in the box how many bags you would like to order. Then complete your payment and...

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Awareness Day 2023

...be a huge success….. Big Blue Bake Sale Kit and Poster https://www.rarechromo.org/files/Bakesalekit.pdf To download details about the Baking Kit, plus a poster to use for your bake sale, just click...

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Where can I get help and support when the Unique team is not available?

...have a list of other crisis services here: https://www.mind.org.uk/information-support/guides-to-support-and-services/crisis-services/helplines-listening-services/ You may also find Unique’s practical support guides helpful, in particular, our Carers Wellbeing and Self-Isolation guides: https://www.rarechromo.org/practical-guides-for-families/ NEW for 2022:...

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Awareness Week

...Click here to order edible rice paper toppers from www.mycupcaketoppers.co.uk/products/unique If you need some help or guidance, just contact Caroline on email to caroline@rarechromo.org Competition: Colour in Gene the Bear!...

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Unique's Funday Friday | 19th June 2020

...2nd and 3rd place.  9am (BST) Quiz:  https://www.virtualquizevents.com/quiz/friday-funday-15-minute-quiz/ 5pm (BST) Quiz: https://www.virtualquizevents.com/quiz/friday-funday-15-minute-quiz-2/ Mindfulness Taster Session Join in our Mindfulness Taster Session on Zoom – from 19.45 to 20.30 BST on...

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Resources

Do take a look around the site but to help you find your way around, here are quick links to some of our most popular pages:...

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Terms & Conditions

...default all users are considered to be non-medical professionals. Any medical professionals must identify themselves as such when posting medical information. Medical information posted is designed to complement the relationship...

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Join Us

Become a Member Unique supports and informs families affected by rare chromosome and gene disorders and the professionals working with them. It’s free to join and become part of our supportive...

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Disorder Guides

...your or your child’s condition is not listed please contact us directly (help@rarechromo.org) to check if we have any members registered with that condition. We are a very small team...

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Advertising Policy

The Unique website www.rarechromo.org does not carry advertising and none of the space or content has been sold or leased to any third party for the purpose of generating revenue....

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Equal Opportunities Policy

...will be given a copy of this policy and appropriate mechanisms will be put in place for monitoring purposes. In addition, it will be displayed on the organisation’s website, www.rarechromo.org...

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Our History

...huge increase in our workload but still remains small. We are supported by hundreds of clinical and other professionals, including geneticists and paediatricians, freely volunteering their time, skills and expertise,...

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Disclaimer

...advice. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Unique mentions other organisations’ message boards and websites to help families looking...

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Practical Guides for Families

...a new topic added to this range of guides, please let us know by emailing marion@rarechromo.org with your ideas. To support our work in this area to help us produce...

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Become a Volunteer

...please email us at volunteer@rarechromo.org We will ask you to complete a short form and, if appropriate, offer a short, informal interview to ensure we meet each other’s expectations, answer...

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Cookie Policy

...pages they visited. Click here for an overview of privacy at Google For further information please email info@rarechromo.org or rarechromo@aol.com Last edited by Beverly Searle BSc(Hons) PhD CBiol MRSB 5th...

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Annual Reports

...Craig Mitchell Chief Operating Officer Unique The Stables, Station Road West, Oxted, Surrey, RH8 9EE, UK Email: Craig@rarechromo.org Last edited by Beverly Searle BSc(Hons) PhD CBiol MRSB 5th January 2018...

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News

The Be-Well Checklist: Helping parents, carers and professionals to change the behaviour and improve the wellbeing of people with severe learning disability and complex needs.

...https://authors.elsevier.com/a/1c88o6EIwShwqA       Feedback Survey for the checklist https://www.surveymonkey.co.uk/r/RJKBP8W   Vagus Nerve Stimulation Could Help Treat Behavior in PWS   www.fpwr.org/blog/study-shows-vagus-nerve-stimulation-could-help-treat-behavior-in-pws Cerebra Legal Rights Service   www.cerebra.org.uk/get-advice-support/legal-entitlements-problem-solving-project/   From...

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Covid-19 Vaccinations (UK Only)

...from Contact: https://contact.org.uk/advice-and-support/covid-19/children-with-health-needs/covid-vaccination-your-questions-answered/ More information about the Covid-19 vaccination programme is available here: https://www.gov.uk/government/publications/priority-groups-for-coronavirus-covid-19-vaccination-advice-from-the-jcvi-30-december-2020/joint-committee-on-vaccination-and-immunisation-advice-on-priority-groups-for-covid-19-vaccination-30-december-2020#fn:3 Why you should register with your GP as a carer: https://www.carersuk.org/help-and-advice/health/looking-after-your-health/your-gp Unique’s Carers Wellbeing guide: https://www.rarechromo.org/practical-guides-for-families/...

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New general advice regarding Coronavirus (COVID-19) for patients with rare genetic disorders

...for parents and carers of medically complex children: https://www.wellchild.org.uk/2020/03/18/ten-ways-to-keep-my-child-withcomplex-health-needs-safe/. This includes a helpful link to a poster to put on your front door to advise visitors to your home of...

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Unique supporter Adam Astill on how we help families

...we can further grow our knowledge and understanding of these rare conditions. Just visit www.rarechromo.org/donate and together we can help more families like our festive shining stars below. Alternatively, you...

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Unique's Christmas Colouring Competition!

...the world ๐ŸŒ To enter: Please donate a minimum of £1 at www.rarechromo.org/donate with the reason for donation as ‘Christmas Colouring Competition’ Take a photo or scan a copy of...

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Join our Team: Unique are Recruiting!

...www.rarechromo.org Applications in writing, with full CV, on email to craig@rarechromo.org to Craig Mitchell, Chief Operating Officer, Unique, by 5pm on Monday, June 7th 2021. Interviews will take place during...

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Martina & Lucy

...and shares their story about how Unique offers hope to families by showing them that they are never alone. Find out if Unique can support you and your family at www.rarechromo.org...

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Christmas......Sorted!

Buy your Christmas cards from Unique and you’ll be directly helping those with rare chromosome and gene disorders. We have brand new, colourful and very festive designs this year, something...

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A Unique Experience

...2 week window for me to join them. I wanted to learn more about the services that Unique provides families affected with rare chromosome disorders, as well as how professionals...

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Guidance on shielding and protecting people who are clinically extremely vulnerable from COVID-19

...click this link below to view the latest guidelines: https://www.gov.uk/government/publications/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19 If you are unsure if your child is clinically extremely vulnerable, please discuss this with your GP or health professional....

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IMPaCCT study: Investigating the impact of COVID-19 on caregivers and patients

...about the current needs expressed by patients and caregivers. If you have any questions please do not hesitate to get in touch at Julie.mcmullan@qub.ac.uk or visit https://www.qub.ac.uk/sites/RareDisease/News/IMPaCCtStudy-investigatingtheimpactofCOVID-19oncaregiversandpatients.html Survey link: https://www.surveymonkey.co.uk/r/IMPACCTsurvey...

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Farewell Gill

...avoid bias, Beverly was appointed to the full-time role with Marion Mitchell providing part-time support. At 1,200 member families, the website www.rarechromo.org was launched and, in one sense, with Beverly,...

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Update: Down Syndrome Bill

...click here to read a copy of the letter or post the following into your browser: www.rarechromo.org/files/dsletter21 In addition to Unique, the other organisations to have signed the letter are:...

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Translating Unique's Chromosome Disorder Guides

...Swedish guide in its long and short versions, and I hope more will follow! Best wishes, Kristina Photo credit: HANS ODEBERG See our chromosome and gene disorder guides at https://www.rarechromo.org/disorder-guides/...

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Volunteers Needed: Manchester/North West UK

...to acknowledge and appreciate the time and expertise you’re sharing with them. Interested in getting involved? Find out more by visiting their website (www.mrcc.org.uk/education-engagement/werrare/) and send in your expression of...

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Unique over Christmas and the New Year

...will reopen on the 4th  January 2021. During this period, you may find the information on our website useful: www.rarechromo.org. We will still have some great content going out across...

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New Webinar: Delivering Different/Difficult News

...would like to book to attend the webinar, this is the link: https://www.eventbrite.co.uk/e/delivering-different-news-to-families-by-healthcare-professionals-tickets-245707306167 Please note. This is not being run by Unique. Should you have any questions, please email esther.mugweni@ihv.org.uk...

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New information guide on 22q11 deletion syndrome now available in Lithuanian thanks to international teamwork

...undiagnosed disorders including those associated with intellectual disabilities and neurodevelopmental disorders. ESHG-Y is the European Society of Human Genetics Young genetics specialists members network. View our information guides at www.rarechromo.org/disorder-guides...

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News from Georgia

...such a dedicated group of academics! As usual, all guides will be placed on our website at www.rarechromo.org/disorder-guides and will be freely available to anyone who may find them helpful....

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Brand New Guide: Mental Health & Wellbeing

...mental health problem, you are not alone in feeling the way you do. Check out our wellbeing support page at https://rarechromo.org/wellbeing/ and also our crisis and support page at https://rarechromo.org/crisis-support/...

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How genomics helped get a diagnosis

NHS England Genomic Medicine Service supported Unique’s Rare Chromosome & Gene Disorder Awareness Day in June 2022 by sharing information and family stories; highlighting the role genomics and the National...

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Unique's range of free to downloadย  'practical' guides for families

...download and focus on more generic topics which are relevant to families caring for a child or adult with a rare chromosome or gene disorder. Topics covered include A guide...

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Gift Ideas and Useful Websites

...you thoroughly check them out (including making sure the products are safe) before you buy anything or take any of the advice given. Click Here to go to the list...

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Unique Volunteering Experience - Joe Butt

...the CEO, and Claire and Anna, who are both scientific communication officers. I was initially amazed at how small the organisation is, for so few people to produce so many...

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Invitation to participate in study about NIPT (Non-Invasive Prenatal Testing)

...Participants are eligible to take part whether they accepted or declined NIPT. For further information please contact the researchers: Ruth Horn (ruth.horn@ethox.ox.ac.uk) or Adeline Perrot (adeline.perrot@ethox.ox.ac.uk) Or go to www.ethox.ox.ac.uk/Our-research/research-projects/nipt...

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Scaling the Heights...

...to do something to help a little bit.” A massive thank you to Leo and Katie and GOOD LUCK!! You can support Leo at: https://www.justgiving.com/fundraising/katie-fox16 Leo – a true #shiningstar...

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UK Rare Diseases Framework

...patient organisations formally identified and refined priorities and underpinning themes for the new framework. These ideas were further tested through stakeholder engagement with patient organisations, clinicians, researchers and industry representatives...

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Rare Chromosome Disorder Awareness Day - Quiz for Professionals

Quiz for genetics professionals Flora Joseph, Genetic Counsellor at AWMGS has created a quiz for genetics professionals to help raise awareness of rare chromosome & gene disorders and fundraise in...

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Welcome Anita!

...of the issues faced by Unique families, particularly in the early days. Please click here to read more about Anita. If you would like to contact her, please email anita@rarechromo.org ...

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Imagine ID research findings

...rare genetic variants associated with intellectual disability. Click here to read the full paper. A summary is also available in written and video format on the Imagine ID website: https://imagine-id.org/news/imagine-id-research-publication/...

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Paydata Ltd Supporting Unique

...planned. If your employer supports a charity, why not nominate us. We can help with any information or support you need. Just drop us a line on email to craig@rarechromo.org...

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Discussion groups to understand community attitudes to research on rare genetic disorders in British Pakistanis

...professionals from Leeds Teaching Hospital and Guy’s Hospital in London, together with the charity Social Action for Health. Practicalities The session will take place over video conference (Zoom) and will...

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Paydata: Target Smashed!

...even just supports a charity from time to time, why not think about nominating Unique? Just email craig@rarechromo.org if you have any questions or need some information about the charity....

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What is an Array-CGH?

...the diagnosis. It will also be useful for professionals, helping to explain things to patients, for example before they undergo an array CGH. You can view the animation here: https://youtu.be/s7WWd7zsCdU...

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Brand New Info Guide for Rare Disease Day 2024!

...or would like help interpreting your/your child’s genetic report, please get in touch with Unique (help@rarechromo.org) or contact your local Genetics service. You may also find Unique’s Glossary of Genetic...

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Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE 2)

...take part, please email imagineID@cardiff.ac.uk for more information, or contact one of our researchers on the numbers below: Lauren: 02920 688065  Poppy: 02922 512286  Hannah: 02920 688316 More info: https://imagine-id.org/news/video/...

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People

Francesca Wicks

I was thrilled to join the Unique team as a part-time Information Officer in August 2019. My role is to answer queries from families and professionals, provide information about specific...

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Claire Andersen

...guides, including those to Tetrasomy 9p, 14q deletions, Diploidy Triploidy and 10p deletions from p11 and p12. My professional background has included working as a research scientist – specialising in...

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Sarah Wynn

...have any questions or would like to join or know more about Unique: sarah@rarechomo.org. Sarah Wynn PhD is the editor of the Unique website. This is an explanation of her...

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Anna Pelling

...scientific literature and related databases but with information gathered from families who can give a more personal insight as to the effects of such changes. Anna Pelling BSc(Hons) PhD anna.pelling@rarechromo.org...

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Louise Jeffree

...for such a good purpose! If you would like to make a donation or have any finance queries, please don’t hesitate to get in touch! My email address is louise@rarechromo.org...

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Craig Mitchell

I’m Unique’s Chief Operating Officer and work on fundraising, administration and infrastructure, basically anything to support the frontline staff as they deliver services to families and professionals. My background is...

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Charlotte Wilmshurst

...provide a listening ear and answer questions by email and on the telephone helpline. I also answer queries from professionals and match members based on their rare chromosome disorder. Alongside...

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Anita Davis

Hi, I am Anita and I am delighted to join the Unique team. Professionally I have worked as a Midwife for the last 26 years. In the latter part of...

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Gemma Mitchell

...of different disorders, helps us support families and professionals, match families with others and we’ve even used it to help families gain access to services and resources. I am Mum...

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Disorder Guides

Trastorno asociado a IQSEC2 Spanish

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Xp11.2 duplications Spanish

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Inverted duplication & deletion of 8p Polish

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XYY syndrome Spanish

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DDX3X syndrome Spanish

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HNRNPU-related disorder Russian

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Cantu syndrome Russian

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ZMYND11 related syndromic intellectual disability

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GRIN2B related syndrome Russian

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SLC12A2 syndrome and SLC12A2-related deafness Russian

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Xp11.2 duplications Russian

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HUWE1-related ID Russian

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12p Duplications Russian

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22q13 deletions Phelan-McDermid syndrome Italian

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SOX5 syndrome Lamb-Shaffer syndrome 12p12 deletions Russian

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Pallister-Killian syndrome Russian

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SETD5 Spanish

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SETD5 and 3p25 deletion syndrome Russian

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Au-Kline syndrome (HNRNPK LOF variants and 9q21.32 microdeletions) Russian

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5q14.3 deletions Russian

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NONO-associated X-linked ID syndrome Russian

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15q14 deletions Russian

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BRPF1-related disorder Russian

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DDX3X syndrome Russian

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2p16.3 (NRXN1) deletions Russian

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FOXP1 syndrome Russian

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NONO-associated X-linked ID syndrome Spanish

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TBCK syndrome Spanish

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STXBP1 disorders Russian

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Trisomy 14 mosaicism Russian

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Deletions and microdeletions Malay

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SOX11 syndrome and 2p25.2 deletions Russian

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TUBA1A related tubulinopathy Russian

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10q25 and 10q26 Deletions Russian

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5q14 Duplications Russian

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BRPF1 related disorder Spanish

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PCDH19-related epilepsy Italian

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SATB2 syndrome (Glass syndrome) Russian

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7q11.23 duplication syndrome Polish

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RHOBTB2 syndrome Russian

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CACNA1C Timothy syndrome Russian

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HUWE1-related ID Spanish

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22q13 deletions Phelan-McDermid syndrome Spanish

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Duplicazione invertita e delezione di 8p

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Inverted duplication & deletion of 8p Spanish

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1q21.1 microduplications Italian

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CLTC-related ID Russian

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