Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100038247
Gene Symbol: PTLS
PTLS
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.010 Biomarker BEFREE Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. 24311450

2014