236200.9.1 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-1 from Family 7 in the public... |
236200.9.2 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-2 from Family 7 in the public... |
236200.9.3 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Father of 236200.9.1 |
236200.9.4 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Mother of 236200.9.1 |
236200.10.1 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-1 from Family 8 in the public... |
236200.10.2 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-2 from Family 8 in the public... |
236200.G.1 | Qatar | 60+ | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | El-Said et al. 2006 | Group of patients from 30 families that ... |
236200.G.2.1 | Qatar | 12 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zschocke et al. 2009 | Group of 6 infants with elevated homocys... |
236200.G.2.2 | Qatar | 225 | NA | | | Zschocke et al. 2009 | Group of 225 infants (heterozygous carri... |
236200.G.2.3 | Qatar | 14 | NA | | | Zschocke et al. 2009 | Group of 14 infants (heterozygous carrie... |
236200.G.3 | Qatar | 14 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Gan-Schreier et al. 2010 | Group of 7 infants with elevated homocys... |