12q14 mikrodelesjon

Engelsk navn: 12q14 microdeletion syndrome
Engelske synonym: 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 <i>LEMD3</i> gene: mutations in this gene have already been implicated in osteopoikilosis.

Fra Orphanet

ORPHA: 94063
Klassifiseringsnivå: Disorder
ICD-10: Q93.5

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