232200.1

Country

Saudi Arabia

HPO Terms

Increased sarcoplasmic glycogen; Increased hepatic glycogen content; Abnormal bleeding; Hypoglycemia;
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000151.3:c.247C>T2
NM_000152.4:c.266G>A2
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