POU3F4, POU class 3 homeobox 4, 5456

N. diseases: 65; N. variants: 18
Disease: Diverticulum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0012817
Disease: Diverticulum
Diverticulum 		0.010 GeneticVariation phenotype BEFREE This case suggests that POU3F4 mediated X-linked stapes gusher syndrome may also lead to multiple vestibular diverticula and hypothalamic hamartoma and, therefore, brain magnetic resonance imaging (MRI) could be considered in patients presenting with these inner ear findings. 31440883 2020