PTLS, Potocki-Lupski syndrome, 100038247

N. diseases: 17; N. variants: 0
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 Biomarker disease BEFREE In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism. 22178197 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 Biomarker disease BEFREE Neurobehavioral studies determined that ∼70-90% of PTLS subjects tested positive for autism or autism spectrum disorder (ASD). 22492990 2012