617106.2

Country

Lebanon

HPO Terms

Ataxia; severe; Global developmental delay; Strabismus; Generalized myoclonic seizure
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Sex

Unknown

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001127221.1:c.4991G>A1
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