12q14 microdeletion syndrome

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12q14 microdeletion syndrome

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 March 2024

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Advocacy Organizations

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.

Clinical Trials

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