225280.2.1

Country

Saudi Arabia

HPO Terms

Rod-cone dystrophy; Abnormal facial shape; Ectrodactyly
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001793.6:c.307C>T2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
225280.2.2Saudi ArabiaRod-cone dystrophy; Abnormal facial shape; EctrodactylyMaleYesYesRelative of 225280.2.1
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