218340.20.2

Country

Saudi Arabia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_138425.4:c.53-2A>G1

Remarks

Father of 218340.20.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
218340.20.1Saudi ArabiaIntellectual disability; Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Unilateral renal atrophyMaleYesProband from 'family 024' in the publication
218340.20.3Saudi ArabiaFemaleMother of 218340.20.1
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