220210.1.1

Country

Saudi Arabia

HPO Terms

Craniosynostosis; Abnormal facial shape; Malar flattening; Micrognathia; Turricephaly; Broad hallux
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014846.4:c.2849A>G2
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