Disease: Speech Delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.330 GeneticVariation disease BEFREE Haploinsufficiency of the SHANK3 gene causes a developmental disorder, 22q13.3 deletion syndrome (known as Phelan-McDermid syndrome), that is characterized by severe expressive language and speech delay, hypotonia, global developmental delay, and autistic behavior. 22749736 2013
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.330 GeneticVariation disease BEFREE Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development. 21378602 2011
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.330 Biomarker disease BEFREE We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay. 18523453 2008
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.330 Biomarker disease CTD_human Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.330 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006