615583.1

Country

Saudi Arabia

HPO Terms

Cleft lip; Abnormality of the vertebral column
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_078480.3:c.24+1G>C 2

Remarks

Father is similarly affected
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