Global Variome shared LOVD

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

Phenotype #0000201731 Individual ID 00263374 Associated disease PPRD Phenotype details height 127 (SD-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Neck movements restricted; affected joints hands, wrists, elbows, hips, knees, neck; no facial dysmorphism; no intellectual disability; Diagnosis/Initial progressive pseudorheumatoid dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite PPAC Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 7y 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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