Phenotype #0000163545

Individual ID 00215093
Associated disease MMD
Phenotype details CPK elevated (HP:0003236) 5200, unable to stand on tiptoe
Diagnosis/Initial Myoshi myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite MMD1
Age/Examination -
Age/Diagnosis 46y
Age/Onset 31y
Phenotype/Onset unable to stand on tiptoe
Protein -
Owner name Rumiko Izumi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-08-24 21:14:02 +02:00 (CEST)
Date last edited 2020-05-02 18:43:40 +02:00 (CEST)

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.