ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
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 		0.150 GeneticVariation disease BEFREE This is the first reported case of ambiguous genitalia and psychomotor delay associated with this novel missense mutation within the ARX protein, and it highlights the value of exome sequencing even in sporadic cases. 25074490 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.150 GeneticVariation disease BEFREE Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. 23583054 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.150 GeneticVariation disease BEFREE The authors report detailed clinical and developmental assessment of 3 brothers who were found to carry a novel mutation in the ARX gene associated with a relatively mild phenotype of static global developmental delay and early hand preference. 22922607 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.150 GeneticVariation disease BEFREE Cases 3 and 4, two siblings with a novel variant in ARX, which is not clearly pathogenic, have developmental delay. 18462864 2008
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.150 GeneticVariation disease BEFREE This study is the first report of ARX mutational screening in Thai pediatric patients with delayed development. 17613295 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.150 Biomarker disease HPO