Global Variome shared LOVD

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Phenotype #0000201724 Individual ID 00263367 Associated disease PPRD Phenotype details difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, elbows, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; Severe involvement compared to proband; platyspondyly; kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Diagnosis/Initial progressive pseudorheumatoid dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite PPAC Age/Examination 45y (45 years) Age/Diagnosis - Age/Onset 7y 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 2019-08-25 14:16:10 +02:00 (CEST) Date last edited 2019-08-25 21:31:33 +02:00 (CEST)

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