261600.2.2

Country

Lebanon

HPO Terms

Hyperphenylalaninemia;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000277.3:c.1055G>T2

Remarks

Sibling of 261600.2.1. Diagnosed through NBS.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
261600.2.1LebanonHyperphenylalaninemia; Psychomotor retardation; Nausea; VomitingFemaleYesYes
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