Phenotype #0000201734

Individual ID	00263377
Associated disease	PPRD
Phenotype details	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;
Diagnosis/Initial	progressive pseudorheumatoid dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PPAC
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	3y
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