Global Variome shared LOVD

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

Phenotype #0000239612 Individual ID 00315867 Associated disease MD Phenotype details see paper; ..., 7y-first elevated CK (HP:0003236), 8,500-12,600; proximal weakness (HP:0003701); no axial weakness (-HP:0003327); no muscle atrophy (-HP:0003202); no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), waddling gait; no loss of ambulation (-HP:0002505), limited, assisted ambulation; no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678) Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MYPLG Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 07y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-29 16:12:56 +01:00 (CET) Date last edited 2023-06-02 11:42:17 +02:00 (CEST)

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