Global Variome shared LOVD

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

Phenotype #0000328688 Individual ID 00438790 Associated disease MD Phenotype details moderate intellectual disability; CK level 600-5000IU; no muscle weakness; muscle biopsy unspecific myopathic pattern; no movement disorder; ; no epilepsy; MRI brain normal Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR18 Age/Examination 17y-20y 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

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