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261600.1
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Subject Details
Country
Lebanon
HPO Terms
Hyperphenylalaninemia
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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_000277.3:c.164_165del
2
Phenylketonuria
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Remarks
Diagnosed through NBS. Has an affected brother
References
Karam et al. 2013
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