Global Variome shared LOVD

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Phenotype #0000124805 Individual ID 00152462 Associated disease MDC Phenotype details contractures, no hypertrophy, spine unaffected, hypermetropia, MRI hydrocephalus, white matter abnormality, cerebellar cysts; hypermetropia; not able to sit Diagnosis/Initial MEB;muscular dystrophy, congenital, Fukuyama type (FCMD); muscular dystrophy, congenital Diagnosis/Definite - Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 7m 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 22:24:07 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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