Phenotype #0000085807

Individual ID 00108213
Associated disease RMD2
Phenotype details cramps, stiffness, recurrent pigmenturia, chronic neck stiffness, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, muscle rippling, muscle hypertrophy calf; CPK 440
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 24y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2003-01-18 17:03:34 +01:00 (CET)
Date last edited 2012-03-04 15:56:02 +01:00 (CET)

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.