Phenotype #0000201740

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00263383
Associated disease	PPRD
Phenotype details	height 112 (SD-0-2); difficulty walking; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, knees, spine; no facial dysmorphism; platyspondyly;
Diagnosis/Initial	progressive pseudorheumatoid dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PPAC
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
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)

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