Global Variome shared LOVD

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

Phenotype #0000052844 Individual ID 00073174 Associated disease ? Diagnosis/Initial dysferlinopathy Diagnosis/Definite - Phenotype details Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) Inheritance Familial, autosomal recessive Age/Examination 43y (43 years) Age/Diagnosis - Age/Onset 36y Phenotype/Onset Difficulty climbing stairs (HP:0003551) Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-09 13:06:11 +02:00 (CEST) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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