Global Variome shared LOVD

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

Phenotype #0000124814 Individual ID 00152471 Associated disease MDC Phenotype details minor brain structural abnormalities; moderate myopia; CPK 5100; intellectual disability (HP:0001249); onset neonatal; able to stand Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite - Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset Hypotonia Protein POMT1 activity markedly reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-02-08 10:20:36 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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