Phenotype #0000124679

Individual ID 00152336
Associated disease MDC
Phenotype details contractures ankles, no cardiac or respiratory involvement, microcephaly, MRI normal; CPK 3000; moderate intellectual disability (HP:0002342); able to sit, stand (orthoses)
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite -
Inheritance Unknown
Age/Examination -
Age/Diagnosis 3y
Age/Onset 6m
Phenotype/Onset -
Protein IHC reduced DAG1
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 2008-02-08 20:31:27 +01:00 (CET)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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