POU3F2, POU class 3 homeobox 2, 5454

N. diseases: 40; N. variants: 1
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.020 GeneticVariation disease BEFREE A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay. 30199896 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.020 GeneticVariation disease BEFREE Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability. 26833329 2016