Disease: 22q13.3 Deletion Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		0.010 GeneticVariation disease BEFREE Mutations in <i>SHANK1-3</i> are prevalent in patients with autism spectrum disorders (ASD), and loss of one copy of <i>SHANK3</i> causes Phelan-McDermid Syndrome, a syndrome in which Autism occurs in >80% of cases. 30405356 2018