Global Variome shared LOVD

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Phenotype #0000201718 Individual ID 00263361 Associated disease PPRD Phenotype details height 121.5 (SD-5-6); difficulty walking; muscle weakness; joint pain; no joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, knees, ankles, spine; no intellectual disability; platyspondyly; scoliosis; enlarged femoral epiphyses; no 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 14y (14 years) Age/Diagnosis - Age/Onset 3y 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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