208230.8

Country

Jordan

HPO Terms

Joint stiffness; Joint swelling; Limb joint contracture; Rheumatoid arthritis; Abnormal vertebral morphology; Enlarged epiphyses
Back to search Result
Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003880.3:c.168G>T2NA

Remarks

Patient from 'Family 10' in the publication
© CAGS 2024. All rights reserved.