ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Disease: Severe intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.020 GeneticVariation disease BEFREE Group 1 comprised two children (6%) with severe intellectual disability (one Mowat-Wilson syndrome and one ASD). 28947381 2018
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.020 GeneticVariation disease BEFREE The multitude and diversity of known ASD genes has extended the clinical notion that ASD comprises very heterogeneous conditions ranging from severe intellectual disabilities to mild high-functioning forms. 28551748 2017