Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000058657 Individual ID 00078901 Associated disease MYOP Phenotype details myopathy, congenital; progressive gait difficulties (requires assistance with prolonged ambulation); weakness distal>proximal, LE>UE; no eye muscle involvement, no respiratory involvement, no cardiac involvement; required special education; ankylosing spondylitis; epilepsy; mild MR; increased CPK (HP:0003236) 129-355 IU/L Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset developmental delay Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-09-07 15:20:17 +02:00 (CEST) Date last edited 2012-09-07 15:31:10 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.