disease arises from structure disease arises from alteration in structure 13q12.3 (Human) syndromic intellectual disability syndrome caused by partial chromosomal deletion multiple congenital anomalies/dysmorphic syndrome-intellectual disability partial deletion of the long arm of chromosome 13 13q12.3 microdeletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/13q123_microdeletion_syndrome MONDO:0018474 GARD:0021737 UMLS:C4750951 Orphanet:412035 MEDGEN:1657124 monosomy 13q12.3 Del(13)(q12.3) 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. epidermal disease