Global Variome shared LOVD

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

Phenotype #0000053376 Individual ID 00073636 Associated disease MMD Phenotype details Elevated serum creatine phosphokinase (HP:0003236), no arrhythmia (-HP:0011675), Mildly reduced ejection fraction (HP:0012663), Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-13 11:41:24 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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