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 April 2026
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12q14 microdeletion syndrome?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
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.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
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