Phenotype #0000125207

Individual ID 00102408
Associated disease MDC
Phenotype details mild contractres, feeding problems (incl. bulbar weakness), MRI bilateral occipital polymicrogyria with white matter change, ophthalmoplegia, mitral regurgitation; mental retardation; sit; wheelchair bound
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1A
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset <7d
Phenotype/Onset -
Protein IHC no LAMA2
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 2010-04-11 22:50:18 +02:00 (CEST)
Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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