Phenotype #0000315406

Individual ID 00424211
Associated disease DMD
Phenotype details see paper; ..., birth 41w Caesarean section, required temporary respiratory support; normal speech development, motor development delayed; 3y-unsteady gait, imbalance; 6y-poor coordination; highly elevated serum CK (7y-9892 U/L, 9y-10,694 U/L)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 13y (13 years)
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
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 2022-11-18 16:31:39 +01:00 (CET)
Date last edited N/A

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