215700.1.2

Country

Morocco

HPO Terms

Hyperphenylalaninemia
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000050.4:c.1168G>A2

Remarks

Brother of 215700.1.1, case 2 in the publication. Patient is also compound heterozygous for IVS10-H100R mutation in the PAH gene.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
215700.1.1MoroccoVomiting; Seizure; LethargyUnknownYesYesCase 1 in the publication
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