Global Variome shared LOVD

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

Phenotype #0000157199 Individual ID 00208524 Associated disease MDCL Phenotype details muscular dystrophy; gross motor developmental delay; severe scoliosis, limb-girdle muscular dystrophy; White mater abnormality Diagnosis/Initial metachromatic leukodystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MDC1A Age/Examination 14y (14 years) Age/Diagnosis 14y Age/Onset - Phenotype/Onset 14y Protein - Owner name Kien Trung Tran Database submission license No license selected Created by Kien Trung Tran Date created 2018-12-10 08:34:31 +01:00 (CET) Date last edited 2018-12-14 16:08:05 +01:00 (CET)

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