204200.1.1

Country

Lebanon

HPO Terms

Visual impairment ; Myoclonus ; Cerebellar atrophy ; Cerebral atrophy ; Shuffling gait ; Gait imbalance ; Memory impairment ; Dysarthria
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Sex

Male

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000086.2:c.461-280_677+382del1
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