277900.33

Country

Saudi Arabia

HPO Terms

Excessive salivation; Dystonia; Hyperactive deep tendon reflexes; Decreased circulating ceruloplasmin concentration; Elevated hepatic transaminase ;
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000053.3:c.4021G>A2
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