Phenotype #0000123886

Individual ID 00151518
Associated disease MDC
Phenotype details severe, speech: babble, seizures, myopia, patchy white matter changes; CPK level 5002; able to roll over
Diagnosis/Initial muscular dystrophy, congenital, Fukuyama type (FCMD);MEB
Diagnosis/Definite MDDGA-4
Inheritance Familial
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein DAG1 reduced
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-11-12 19:53:57 +01:00 (CET)
Date last edited 2012-03-09 19:03:40 +01:00 (CET)

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