STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Rett Syndrome, Atypical ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.300 GermlineCausalMutation disease ORPHANET A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.300 GermlineCausalMutation disease ORPHANET In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. 25914188 2015