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208230.4
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Subject Details
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 Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_198239.2:c.246del
2
NA
Progressive Pseudorheumatoid Dysplasia
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Remarks
Patient from 'Family 4' in the publication
References
Hurvitz et al. 1999
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