12q14 microdeletion syndrome

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Synonyms: Del(12)(q14) | Deletion 12q14 | Monosomy 12q14 | Osteopoikilosis-short stature-intellectual disability syndrome

12q14 microdeletion syndrome is characterised by mild intellectual deficit failure to thrive short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14 which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.

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 July 2024

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Advocacy Organizations

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Uganda Alliance of Patients Organization

Uganda Alliance of Patients’ Organization (UAPO) is a not-for profit patient- led NGO aiming to amplify the patients’ voice while advocating for improvements and access to quality and equitable health care through a patient centered approach. We promote meaningful involvement and engagement of patients in matters affecting their lives as they interact with HCPs and decision makers.

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Clinical Trials

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