249000.4.3

Country

Saudi Arabia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017777.4:c.1066C>T1

Remarks

Mother of 249000.4.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
249000.4.1Saudi ArabiaStillbirth; Renal cyst; EncephaloceleUnknownYesYesFetus was presumed to be homozygous based on both parents' DNA. The patient had 2 similarly affected siblings
249000.4.2Saudi ArabiaMaleFather of 249000.4.1
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