Phenotype #0000153473

Individual ID 00205279
Associated disease MDC
Phenotype details intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 843; not floppy at birth; no cardiomyopathy; skin change; muscle (6y)-weakly necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; no seizures; walk 2y6m
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite MDCMC
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2011-06-28 16:30:12 +02:00 (CEST)
Date last edited 2013-02-01 19:44:08 +01:00 (CET)

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