Phenotype #0000125074

Individual ID 00102269
Associated disease MDC
Phenotype details dystrophy, muscular, congenital; 3y-normal gait, waddling run, no seizures; CPK: 20000 U/L; w3y
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1A
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 2m
Phenotype/Onset unable to lift head
Protein IHC LAMA2 partially absent
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 2007-10-08 08:33:43 +02:00 (CEST)
Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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