Phenotype #0000164233

Individual ID 00215781
Associated disease MDC
Phenotype details 2m-no head control, generalized hypotonia; 3y-CK 1262; CPK not elevated (-HP:0003236); walk 19m
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite -
Inheritance Unknown
Age/Examination -
Age/Diagnosis >5y
Age/Onset 0d
Phenotype/Onset muscle weakness
Protein WB no DYSF, normal DMD/SGCA/LAMA2/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 2012-01-03 10:37:11 +01:00 (CET)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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