ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Disease: Hyperargininemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.010 GeneticVariation phenotype BEFREE Laboratory results and test scores from neuropsychological evaluations were assessed in 145 study participants, ages 3 years and older, with ASD (n = 64), ASA (n = 65) and ARGD (n = 16). 29423830 2018