Global Variome shared LOVD

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

Phenotype #0000341402 Individual ID 00452839 Associated disease MDC1A Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details Abnormality of the nervous system, Myopathy, Multiple joint contractures, Elevated circulating creatine kinase concentration Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset 00y Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-07-25 10:29:34 +02:00 (CEST) Date last edited 2024-08-01 19:31:56 +02:00 (CEST)

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