118220.1

Country

Saudi Arabia

HPO Terms

Muscle weakness; Distal muscle weakness; Areflexia; Hammertoe; Scoliosis
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000304.4:c.449G>T1
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