Disease: Siderius X-linked mental retardation syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
Siderius X-linked mental retardation syndrome 		0.010 GeneticVariation disease BEFREE Our findings show that in addition to point mutations, a complete deletion of the PHF8 gene is associated with the X-linked mental retardation Siderius-Hamel syndrome (OMIM 300263) and further suggest that the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of autism. 18498374 2008