Phenotype #0000201737

Individual ID	00263380
Associated disease	PPRD
Phenotype details	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;
Diagnosis/Initial	progressive pseudorheumatoid dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PPAC
Age/Examination	13y (13 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