syndromic intellectual disability syndromic disease hereditary disease multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete syndromic diaphragmatic or abdominal wall malformation obsolete syndromic anorectal malformation Kabuki syndrome https://github.com/monarch-initiative/mondo/issues/5588 KMS Kabuki make-up syndrome NORD:1318 Niikawa-Kuroki syndrome OMIMPS:147920 Orphanet:2322 Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. MEDGEN:162897 MONDO:0016512 DOID:0060473 NANDO:1200672 MedDRA:10063935 SCTID:313426007 UMLS:C0796004 NCIT:C124837 NKS NANDO:2200956 icd11.foundation:1104246467 GARD:0006810 MESH:C537705 congenital entropion congenital ectropion