Global Variome shared LOVD

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

Phenotype #0000267855 Individual ID 00372541 Associated disease MD Phenotype details onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; atrophy PUL/DLL/neck; facial weakness; no ptosis; neck weakness; scoliosis; rigid spine; FVC 0.42; no intellectual disability; raised CK 1.4x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-09 13:06:47 +02:00 (CEST) Date last edited N/A

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