Phenotype #0000201746

Individual ID 00263389
Associated disease PPRD
Phenotype details height 110 (SD-1-2); difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, hips; no facial dysmorphism; no intellectual disability; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Physeal seperation at neck of femur
Diagnosis/Initial progressive pseudorheumatoid dysplasia
Inheritance Familial, autosomal recessive
Diagnosis/Definite PPAC
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset -
Protein -
Owner name Gandham SriLakshmi Bhavani
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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