Phenotype #0000201735

Individual ID	00263378
Associated disease	PPRD
Phenotype details	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;
Diagnosis/Initial	progressive pseudorheumatoid dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PPAC
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	2y
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