12q14 microdeletion syndrome
MONDO:001978412q14 microdeletion syndrome is characterized 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.
Also known as: Del(12)(q14), deletion 12q14, monosomy 12q14, osteopoikilosis-short stature-intellectual disability syndrome
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
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Chromosome 12 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 12
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Partial deletion of the long arm of chromosome 12
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Syndrome caused by partial chromosomal deletion
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