207900.7.2

Country

Saudi Arabia

HPO Terms

Attention deficit hyperactivity disorder; Delayed speech and language development; Hepatomegaly
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000048.4:c.1060C>T2NA

Remarks

Patient 2' in the publication, sister of 207900.7.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
207900.7.1Saudi ArabiaAttention deficit hyperactivity disorder; Delayed speech and language development; HepatomegalyMaleYesYes'Patient 1' in the publication
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