ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Disease: Moderate intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.110 GeneticVariation disease BEFREE On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability. 28422132 2017
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.110 Biomarker disease HPO