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235400.G.1
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Subject Details
Country
Palestine
HPO Terms
Complement deficiency; Hemolytic anemia; Renal insufficiency
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Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000186.4:c.3677_*4del
4
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1
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Remarks
Two patients belonging to the same extended Bedouin family as 234500.1.1
References
Ohali et al. 1998;
Ying et al. 1999;
Buddles et al. 2000
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