261600.8

Country

Lebanon

HPO Terms

Hyperphenylalaninemia; Intellectual disability, mild; Eczema
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000277.3:c.782G>A1
NM_000277.3:c.441+5G>T1

Remarks

Has an affected paternal uncle
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