disease arises from structure disease arises from alteration in structure 12q14 (Human) syndromic intellectual disability syndrome caused by partial chromosomal deletion partial deletion of the long arm of chromosome 12 obsolete primary bone dysplasia with increased bone density 12q14 microdeletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome https://www.malacards.org/card/12q14_microdeletion_syndrome MONDO:0019784 monosomy 12q14 Orphanet:94063 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. DECIPHER:76 UMLS:C4305140 deletion 12q14 SCTID:719046005 MEDGEN:930809 osteopoikilosis-short stature-intellectual disability syndrome Del(12)(q14) GARD:0013390