208230.G.2

Country

Saudi Arabia

HPO Terms

Gait disturbance; Limited neck range of motion; Lower limb asymmetry
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_198239.2:c.246del6NA

Remarks

Three related patients
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