604292.3

Country

Saudi Arabia

HPO Terms

Polysyndactyly; Median cleft lip and palate; Abnormal facial shape; Triangular face
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003722.5:c.739C>T1NA

Remarks

De novo mutation

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
604292.2Saudi ArabiaEctodermal dysplasia ; Cleft lip ; Cleft palateMale
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