ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.030 GeneticVariation phenotype BEFREE Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. 23583054 2013
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.030 GeneticVariation phenotype BEFREE Cases 3 and 4, two siblings with a novel variant in ARX, which is not clearly pathogenic, have developmental delay. 18462864 2008
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.030 GeneticVariation phenotype BEFREE This study is the first report of ARX mutational screening in Thai pediatric patients with delayed development. 17613295 2007