600163.1.2

Country

Lebanon

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_198056.2:c.2164A>G1
NM_000258.3:c.311T>C1
NM_006204.4:c.2351G>T1

Remarks

Consanguineous partner. Has 2 kids who died of heart failure. One of them also had achromatopsia

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600163.1.1LebanonFemaleConsanguineous partner. Has 2 kids who died of heart failure. One of them also had achromatopsia
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