disease arises from structure disease arises from alteration in structure 5q12 (Human) syndromic intellectual disability syndrome caused by partial chromosomal deletion chromosome 5q12 deletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/chromosome_5q12_deletion_syndrome UMLS:C3810282 MEDGEN:816612 GARD:0017742 MONDO:0014298 OMIM:615668 PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. DOID:0060421 Orphanet:439822 chromosome 5q12 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability partial deletion of the long arm of chromosome 5