has material basis in germline mutation in disease has feature ANKRD11 Intellectual disability congenital nervous system disorder KBG syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome https://www.malacards.org/card/kbg_syndrome NORD:1322 macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies SCTID:711156009 UMLS:C0220687 Orphanet:2332 MEDGEN:66317 KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies ICD9:759.89 short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies KBG syndrome MONDO:0007846 KBGS GARD:0000082 short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies DOID:14780 icd11.foundation:465550090 OMIM:148050 MESH:C537015 multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal dominant syndromic intellectual disability