19q13.11 microdeletion syndrome
Synonyms: Del(19)(q13.11) | Monosomy 19q13.11
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation slender habitus severe postnatal feeding difficulties microcephaly intellectual deficit with speech disturbance hypospadias and ectodermal dysplasia presented by scalp aplasia thin and sparse hair eyebrows and eyelashes thin and dry skin and dysplasic nails.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version June 2023.
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19q13.11 microdeletion syndrome?
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Center for Chronic Illness
The Center for Chronic Illness (CCI) promotes well-being and decreases isolation for those impacted by ongoing health challenges through support and education.
TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.
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To improve the wellbeing and quality of life of persons living with undiagnosed and rare diseases in Ghana
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Jamal’s Helping Hands
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Patient Advocate Foundation
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Botswana Organisation for rare Diseases
advocate for Rare disease patients and their families
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Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery
Indo US Organization for Rare Diseases (IndoUSrare)
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To The purpose of the group is to help break the stigma around male mental health and to encourage to take care of their emotional well being . It provides rare disease patients, caregivers with a safe space to talk about their experiences, get support and listen to other peoples stories . Having a rare disease comes with many added layers which can impact your life such as physical, medical, emotional, relationships and bereavement so it is important to talk about your emotional and mental well-being. Through awareness and education men have come together in this format and despite different rare conditions have found there is more on common with other men through connecting and supporting each other in this way .
Undiagnosed Diseases Network Foundation (UDNF)
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MarylandRARE (research, advocate, resource & education) is a diverse coalition of rare disease community stakeholders in Maryland. Brought together by lived experience, this coalition of rare disease patients and caregivers, are working to bridge the gap regarding understanding, information, and resources that lead to systemic change at the local, state, and federal levels of government.
Uplifting Athletes Inc.
Inspire the Rare Disease Community with hope through the power of sport.
For a list of clinical trials in this disease area, please click here.