Global Variome shared LOVD

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

Phenotype #0000328680 Individual ID 00438782 Associated disease MD Phenotype details moderate-severe intellectual disability; CK level 450IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain generalized decrease in cortico-subcortical volume Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR18 Age/Examination 13y-16y Age/Diagnosis - Age/Onset - 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 2023-10-24 15:32:51 +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.