219000.G

Country

Lebanon

HPO Terms

Cryptophthalmos; Syndactyly; Abnormality of the upper respiratory tract; urogenital anomalies; Death in infancy
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_025074.6:c.3799C>T10

Remarks

4 male patients and 1 female patient; 2 additional stillborn
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