Global Variome shared LOVD

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

Phenotype #0000239614 Individual ID 00315869 Associated disease MD Phenotype details see paper; ..., 10y-deceased, 2y-first elevated CK (HP:0003236),11,551-18,185; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), diffuse; calf hypertrophy (HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), Trendelenburg and stiff gait, poor heel strike; loss of ambulation (HP:0002505); reduced respiratory function (HP:0002747); no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678) Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MYPLG Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 02y 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 11:45:25 +02:00 (CEST)

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