Phenotype #0000201733

Individual ID	00263376
Associated disease	PPRD
Phenotype details	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
Diagnosis/Initial	progressive pseudorheumatoid dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PPAC
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	-
Protein	-
Owner name	Gandham SriLakshmi Bhavani
Database submission 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)

Global Variome shared LOVD