SNAP25, synaptosome associated protein 25, 6616

N. diseases: 283; N. variants: 15
Disease: Congenital anomaly of face ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.010 GeneticVariation group BEFREE Comparing clinical features of reported patients with SNAP25 mutations, the current patients demonstrated apparently milder clinical features with normal intelligence, and no magnetic resonance imaging abnormality or facial dysmorphism. 29491473 2018