601455.1

Country

Saudi Arabia

HPO Terms

Weakness of facial musculature; Lower limb muscle weakness; Pes cavus; Impaired proprioception; Sensory ataxia; Hearing impairment
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006096.4:c.761del2
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