261600.13.1

Country

Lebanon

HPO Terms

Hyperphenylalaninemia; Psychomotor retardation; Seizure; ;
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000277.3:c.168+5G>A1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
261600.13.2LebanonHyperphenylalaninemia; Psychomotor retardation; Nausea; Vomiting; ;MaleYesNoSibling of 261600.13.1
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