259775.1

Country

Egypt

HPO Terms

Wide anterior fontanel; Proptosis; Depressed nasal bridge; Midface retrusion; Choanal atresia; Macroglossia; Protruding tongue; Femoral bowing; Tibial bowing; Ulnar bowing
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Sex

Male

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020223.4:c.957-3C>G2
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