Phenotype #0000119591

Individual ID 00146613
Associated disease MDC
Phenotype details severe, microcephaly, incl. MR, MRI white matter changes, cerebellar cysts; never walked; intellectual disability; CPK 1370
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1C
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 0y
Phenotype/Onset -
Protein IHC LAMA2 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 2007-08-31 17:40:57 +02:00 (CEST)
Date last edited 2012-03-09 19:02:28 +01:00 (CET)

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