Phenotype #0000058520

Individual ID 00078761
Associated disease LGMD
Phenotype details unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves (assymetry); no scapular winging; raised CPK (HP:0003236) 4500; walking (-HP:0006957)
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 47y (47 years)
Age/Diagnosis -
Age/Onset <40y
Phenotype/Onset calf wasting
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 2011-03-18 19:43:55 +01:00 (CET)
Date last edited 2013-02-19 22:46:21 +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.