HIVEP2, HIVEP zinc finger 2, 3097

N. diseases: 42; N. variants: 18
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.020 GeneticVariation disease BEFREE De novo pathogenic variants in the human immunodeficiency virus enhancer type I binding protein 2 (HIVEP2) gene, a large transcription factor predominantly expressed in the brain have previously been associated with intellectual disability (ID) and dysmorphic features in nine patients. 31207095 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.020 GeneticVariation disease BEFREE Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). 27003583 2016