Phenotype #0000201532

Individual ID 00263087
Associated disease PPRD
Phenotype details height 122 (SD-3-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Low back pain; affected joints hands, elbows, hips, knees, feet, spine; no facial dysmorphism; no intellectual disability; Exaggerated lumbar lordosis; platyspondyly; no kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Severe hip disease
Diagnosis/Initial progressive pseudorheumatoid arthropathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite PPAC
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset 04y
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 2019-08-21 12:51:27 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.