Phenotypes for disease #01667 (PPRD (dysplasia, pseudorheumatoid, progressive), OMIM:208230)

132 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
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Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
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Individual ID     
0000188395 - progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Johan den Dunnen 00249429
0000188396 - progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Johan den Dunnen 00249430
0000188397 - progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Johan den Dunnen 00249431
0000188398 - progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Johan den Dunnen 00249432
0000188399 - progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Johan den Dunnen 00249433
0000188400 - progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Johan den Dunnen 00249434
0000188401 - progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Johan den Dunnen 00249435
0000188402 - progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Johan den Dunnen 00249436
0000188403 - progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Johan den Dunnen 00249437
0000188404 see paper; ... progressive pseudorheumatoid dysplasia - Unknown - - - - - Johan den Dunnen 00249438
0000201532 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 progressive pseudorheumatoid arthropathy PPAC Familial, autosomal recessive 11y - 04y - - Gandham SriLakshmi Bhavani 00263087
0000201533 see paper; ... progressive pseudorheumatoid arthropathy PPAC Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263088
0000201665 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263308
0000201666 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263309
0000201667 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263310
0000201668 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263311
0000201669 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263312
0000201670 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263313
0000201671 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263314
0000201672 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263315
0000201673 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263316
0000201674 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263317
0000201675 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263318
0000201676 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263319
0000201677 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263320
0000201678 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263321
0000201679 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263322
0000201680 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263323
0000201681 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263324
0000201682 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263325
0000201683 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263326
0000201684 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263327
0000201685 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263328
0000201686 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263329
0000201687 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263330
0000201688 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263331
0000201689 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263332
0000201690 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263333
0000201691 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263334
0000201692 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263335
0000201693 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263336
0000201694 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263337
0000201695 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263338
0000201696 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263339
0000201697 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263340
0000201698 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263341
0000201699 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263342
0000201700 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263343
0000201701 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263344
0000201702 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263345
0000201703 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263346
0000201704 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263347
0000201705 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263348
0000201706 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263349
0000201707 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263350
0000201708 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263351
0000201709 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263352
0000201710 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263353
0000201711 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263354
0000201712 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263355
0000201713 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263356
0000201714 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263357
0000201715 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263358
0000201716 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263359
0000201717 see paper; … progressive pseudorheumatoid dysplasia - Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263360
0000201718 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; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 14y - 3y - - Gandham SriLakshmi Bhavani 00263361
0000201719 height 126.5 (SD-2-3); difficulty walking; muscle weakness; no joint pain; joint swelling; joint contractures; affected joints hands, elbows, hips, knees, ankles, feet; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 10y - 4y - - Gandham SriLakshmi Bhavani 00263362
0000201720 height 135 (SD-1-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, ankles; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; epiphyseal irregularities; metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 11y - 1y - - Gandham SriLakshmi Bhavani 00263363
0000201721 difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, ankles; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; epiphyseal irregularities; metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 10y - - - - Gandham SriLakshmi Bhavani 00263364
0000201722 height 134 (SD-4-5); difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, elbows, shoulders, hips, knees, ankles, feet, spine, neck; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 18y - - - - Gandham SriLakshmi Bhavani 00263365
0000201723 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; platyspondyly; kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 27y - 6y - - Gandham SriLakshmi Bhavani 00263366
0000201724 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; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 45y - 7y - - Gandham SriLakshmi Bhavani 00263367
0000201725 no difficulty walking; no muscle weakness; joint pain; joint swelling; no joint contractures; no genu valgum; affected joints hands, wrists, knees, spine; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 8y - 4y - - Gandham SriLakshmi Bhavani 00263368
0000201726 height 138 (SD-4-5); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Unable to squat; affected joints hands, elbows, hips, knees; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 16y - 16y - - Gandham SriLakshmi Bhavani 00263369
0000201727 height 136 (SD-0-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Unable to squat; affected joints hands, elbows, hips, knees, feet; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 12y - 12y - - Gandham SriLakshmi Bhavani 00263370
0000201728 height 116 (SD-3-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Difficulty in squatting; affected joints hands, elbows, hips, knees, feet; no facial dysmorphism; no intellectual disability; Difficulty in writing, 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; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 9y - 3y6m - - Gandham SriLakshmi Bhavani 00263371
0000201729 see paper; … progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive - - - - - Gandham SriLakshmi Bhavani 00263372
0000201730 difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, knees; no facial dysmorphism; no intellectual disability; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 8y - 6y - - Gandham SriLakshmi Bhavani 00263373
0000201731 height 127 (SD-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Neck movements restricted; affected joints hands, wrists, elbows, hips, knees, neck; no facial dysmorphism; no intellectual disability; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 10y - 7y - - Gandham SriLakshmi Bhavani 00263374
0000201732 height 101 (SD-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Coxa vara progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 7y - 5y - - Gandham SriLakshmi Bhavani 00263375
0000201733 height 130 (SD-5-6); difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Myopia; affected joints hands, wrists, elbows, hips, knees, ankles, feet, spine, neck; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Fused ankles and knees progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 16y - 5y - - Gandham SriLakshmi Bhavani 00263376
0000201734 height 140 (SD-0-1); difficulty walking; muscle weakness ; joint contractures; genu valgum; Stiffness of limbs; affected joints, wrists, shoulders, knees, neck; facial dysmorphism; no intellectual disability; ; scoliosis; no enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 11y - 3y - - Gandham SriLakshmi Bhavani 00263377
0000201735 difficulty walking; muscle weakness; joint contractures; Stiffness of limbs; affected joints,wrists, shoulders, knees, neck; facial dysmorphism; no intellectual disability; scoliosis; no enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 9y - 2y - - Gandham SriLakshmi Bhavani 00263378
0000201736 affected joints,wrists, elbows, knees; no facial dysmorphism; no intellectual disability; epiphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 12y - - - - Gandham SriLakshmi Bhavani 00263379
0000201737 height 112 (SD-5-6); no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, hips, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 13y - 4y - - Gandham SriLakshmi Bhavani 00263380
0000201738 height 104 (SD-5-6); no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, hips, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 11y - 4y - - Gandham SriLakshmi Bhavani 00263381
0000201739 difficulty walking; joint swelling; affected joints,elbows, knees; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 14y - - - - Gandham SriLakshmi Bhavani 00263382
0000201740 height 112 (SD-0-2); difficulty walking; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, knees, spine; no facial dysmorphism; platyspondyly; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 7y - - - - Gandham SriLakshmi Bhavani 00263383
0000201741 height 109 (SD-5-6); no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; genu valgum; Mid face hypoplasia; affected joints hands, wrists, elbows, hips, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 12y - 4y - - Gandham SriLakshmi Bhavani 00263384
0000201742 height 110 (SD-4); no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; Mid face hypoplasia; affected joints hands, wrists, elbows, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 9y - 4y - - Gandham SriLakshmi Bhavani 00263385
0000201743 height 145 (SD-2-3); no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, elbows, hips, knees, feet; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; scoliosis; enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Corner fracture progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 15y - 6y - - Gandham SriLakshmi Bhavani 00263386
0000201744 no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints ; platyspondyly; no kyphosis; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 23y - - - - Gandham SriLakshmi Bhavani 00263387
0000201745 height 135 (SD-5); difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, hips, knees, spine; 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, odontoid hypoplasia progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 16y - 4y6m - - Gandham SriLakshmi Bhavani 00263388
0000201746 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 progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 6y - 1y - - Gandham SriLakshmi Bhavani 00263389
0000201747 height 116 (SD-1); no difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, elbows, shoulders, hips, knees, neck; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 7y - 4y - - Gandham SriLakshmi Bhavani 00263390
0000201748 height 101 (SD-2); no difficulty walking; no muscle weakness; no joint pain; no joint swelling; affected joints hands; no facial dysmorphism; no intellectual disability; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 5y - 5y - - Gandham SriLakshmi Bhavani 00263391
0000201749 difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, shoulders, hips, knees, ankles, spine; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; loss of joint space (in affected joints); epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 7y - 3y - - Gandham SriLakshmi Bhavani 00263392
0000201750 height 110 (SD-5); no difficulty walking; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands; no intellectual disability; platyspondyly; scoliosis; periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 10y - 3y - - Gandham SriLakshmi Bhavani 00263393
0000201751 difficulty walking; muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, shoulders, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; no epiphyseal irregularities; no metaphyseal irregularities; progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 5y - 4y - - Gandham SriLakshmi Bhavani 00263394
0000201752 height 140.5 (SD-4); no difficulty walking; no muscle weakness; joint pain; joint contractures; genu valgum; affected joints hands, wrists, elbows, shoulders, hips, knees, ankles, feet, spine, neck; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; scoliosis; no enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; Bilateral hip replacement progressive pseudorheumatoid dysplasia PPAC Familial, autosomal recessive 47y - 12y - - Gandham SriLakshmi Bhavani 00263395
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