Global Variome shared LOVD

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

Phenotype #0000053554 Individual ID 00073744 Associated disease MMD Phenotype details no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Muscle weakness (HP:0001324), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset 34y Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-22 12:37:53 +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.