STX16, syntaxin 16, 8675

N. diseases: 58; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.010 GeneticVariation disease BEFREE Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion. 27338644 2016