Phenotype #0000326935

Individual ID 00437015
Associated disease DMD
Phenotype details see paper; ..., birth at term by caesarian section, weight 3.1kg, transient tachypnea, transient hypoglycemia, jaundice requiring phototherapy; 19d-dehydrated, jaundiced, poor feeding, intermittent vomiting; developmental delay; global weakness; calf hypertrophy; reflexes absent, intellectual disability; elevated CK (2.507 U/L)
Diagnosis/Initial -
Inheritance Familial, X-linked recessive
Diagnosis/Definite DMD;GKD
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 2023-10-11 19:44:37 +02:00 (CEST)
Date last edited N/A

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