214400.1

Country

Lebanon

HPO Terms

Gait ataxia; Upper limb muscle weakness; Sensory ataxia; Kyphoscoliosis; Areflexia; Abnormality of somatosensory evoked potentials
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018972.4:c.668T>A2NA

Remarks

'LIB284-IV.2' in the publication
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