Phenotype #0000125229

Individual ID 00102430
Associated disease MDC
Phenotype details decreased lung capacity (<70%FVC), scoliosis, contractures to severe contractures, feeding problems (incl. bulbar weakness), simple partial seizures, 0.4y-normal echo; mild mental retardation; bottom shuffle; 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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