syndromic intellectual disability syndromic disease hereditary disease multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete syndromic diaphragmatic or abdominal wall malformation Cornelia de Lange syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/cornelia_de_lange_syndrome A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. Orphanet:199 UMLS:C0270972 icd11.foundation:1801560012 MEDGEN:78752 GARD:0010109 OMIMPS:122470 CDLS NANDO:1200960 Cornelia de Lange syndrome NCIT:C75016 Brachmann-de Lange syndrome DOID:11725 NANDO:2200958 MedDRA:10056354 MONDO:0016033 NORD:1009 dysostosis congenital limb malformation obsolete rare disorder with ptosis obsolete syndrome with a symptomatic strabismus