Phenotype #0000201725

Individual ID	00263368
Associated disease	PPRD
Phenotype details	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;
Diagnosis/Initial	progressive pseudorheumatoid dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PPAC
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	4y
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