Global Variome shared LOVD

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Phenotype #0000124653 Individual ID 00152310 Associated disease LGMD Phenotype details hypertrophy, eyes unaffected, microcepahly, white matter minimal abnormality; no eye involvement; CPK 8000; intellectual disability (HP:0001249); able to walk Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Unknown Diagnosis/Definite LGMD2K Age/Examination - Age/Diagnosis - Age/Onset 3y 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 2008-01-27 21:47:05 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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