Global Variome shared LOVD

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

Phenotype #0000125149 Individual ID 00102298 Associated disease MDC Phenotype details no epilepsy, MRI brain classic abnormalities white matter changes, cortical dysplasia; 8m-no neuropathy; CPK: <1000 U/L; no mental retardation; sit Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC no LAMA2 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-10-08 08:33:43 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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