Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000201730 Individual ID 00263373 Associated disease PPRD Phenotype details difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, knees; no facial dysmorphism; no intellectual disability; Diagnosis/Initial progressive pseudorheumatoid dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite PPAC Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name Gandham SriLakshmi Bhavani Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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