Global Variome shared LOVD

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

Phenotype #0000231945 Individual ID 00306097 Associated disease MD Phenotype details max milestone 6y11m-sit aided; contractures wrist, knee, hip; rigid spine; elevated CK level (highest 1156 U/L); ECG normal; UCG-normal; muscle biopsy 6.9y-dystrophic Diagnosis/Initial LMNA-related congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite CMD Age/Examination 6y11m (6 years, 11 months) Age/Diagnosis - Age/Onset 3m 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 2020-07-07 09:28:36 +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.