All individuals with variants in gene STXBP2

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Microattribution     

Disease     

Phenotype details     

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Owner     
00000713 Adiratna Mat Ripen et al.(2020) F Malaysia Malay - - - PID Age at presentation: 7 years, has Upper Respiratory Tract Infection, Hepatosplenomegaly, Bronchiectasis, Anaemia, digital clubbing, persistent tachypnoea, failure to thrive. Passed away at 10 years 1 1 Nur Aisyah Athirah
00000714 Adiratna Mat Ripen et al.(2020) F Malaysia Malay - - - PID Age at presentation: 7 years, has Upper Respiratory Tract Infection, Hepatosplenomegaly, Bronchiectasis, Anaemia, digital clubbing, persistent tachypnoea, failure to thrive. Passed away at 11 years 1 1 Nur Aisyah Athirah
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