STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Macrocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 Biomarker disease BEFREE Neurological features including developmental delay and macrocephaly observed in the present siblings may be derived from the extra-copy of STXBP1. 28899818 2017