Global Variome shared LOVD

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

Phenotype #0000201720 Individual ID 00263363 Associated disease PPRD Phenotype details height 135 (SD-1-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, ankles; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; epiphyseal irregularities; metaphyseal irregularities; Diagnosis/Initial progressive pseudorheumatoid dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite PPAC Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 1y 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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.