Phenotype #0000058500

Individual ID 00078741
Associated disease MMD3
Phenotype details iliopsoas MRC Sin 4, quadriceps atrophy, quadriceps MRC 4 > 2, calf muscles hypertrophy, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 15860; >44y walking (-HP:0006957)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 44y (44 years)
Age/Diagnosis -
Age/Onset 20y
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 2010-02-14 22:37:07 +01:00 (CET)
Date last edited 2011-03-18 18:53:31 +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.