Distal Xq28 microduplication syndrome
Synonyms: Distal dup(X)q(28) | Distal trisomy Xq28 | Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
A rare syndromic X-linked intellectual disability characterized by cognitive impairment behavioral and psychiatric problems obesity recurrent infections atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.
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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Distal Xq28 microduplication syndrome?
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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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Patient Advocate Foundation
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advocate for Rare disease patients and their families
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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.