278250.G.1

Country

Oman

HPO Terms

Lack of skin elasticity; Delayed cranial suture closure
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Sex

Unknown

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_012463.4:c.294+1G>A18

Remarks

9 patients from 3 Omani families
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