12q14 microdeletion syndrome
12q14 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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019703
obsolete primary bone dysplasia with increased bone density (obsolete MONDO:0019703)
excluded_subClassOf
MONDO:0016877
partial deletion of the long arm of chromosome 12
is_a
Del(12)(q14)
exact
deletion 12q14
exact
monosomy 12q14
exact
osteopoikilosis-short stature-intellectual disability syndrome
exact