Global Variome shared LOVD

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Phenotype #0000201532 Individual ID 00263087 Associated disease PPRD Phenotype details height 122 (SD-3-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Low back pain; affected joints hands, elbows, hips, knees, feet, spine; no facial dysmorphism; no intellectual disability; Exaggerated lumbar lordosis; platyspondyly; no kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Severe hip disease Diagnosis/Initial progressive pseudorheumatoid arthropathy Inheritance Familial, autosomal recessive Diagnosis/Definite PPAC Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 04y Phenotype/Onset - Protein - Owner name Gandham SriLakshmi Bhavani Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-08-21 12:51:27 +02:00 (CEST) Date last edited N/A

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