604841.1

Country

Saudi Arabia

HPO Terms

Flat face
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001854.4:c.1945-1G>C1NA

Remarks

De novo mutation

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
604841.2Saudi ArabiaTractional retinal detachmentMaleYes
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