208230.5

Country

Saudi Arabia

HPO Terms

Joint stiffness; Joint swelling; Limb joint contracture; Rheumatoid arthritis; Abnormal vertebral morphology; Enlarged epiphyses
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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_198239.2:c.246del2NA

Remarks

Patient from 'Family 5' in the publication
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