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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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