261600.12

Country

Lebanon

HPO Terms

Hyperphenylalaninemia; Severe global developmental delay; Seizure; Nausea; Vomiting; ;
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000277.3:c.842+1G>T2

Remarks

Has an affected cousin
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