208230.1

Country

Syria

HPO Terms

Waddling gait; Joint swelling; Abnormality of joint mobility; Arthralgia; Generalized amyotrophy; Short stature; Short neck; Abnormal thorax morphology; Genu valgum; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; Osteoarthritis

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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003880.3:c.156C>A	2	NA	Progressive Pseudorheumatoid Dysplasia
NM_003880.3:c.248G>A	2	NA	Progressive Pseudorheumatoid Dysplasia

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Remarks

Patient from 'Family 2' in the publication

References

Delague et al. 2005