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
MONDO:0019784
GARD:13390
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
osteopoikilosis-short stature-intellectual disability syndrome
Del(12)(q14)