Phenotype #0000201740

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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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