Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Synonyms: Autosomal recessive spinocerebellar ataxia type 20 | Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome | SCAR20
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare genetic central nervous system malformation syndrome characterized by early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability global developmental delay progressively coarsening facial features relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.
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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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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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
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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.