Phenotype #0000326934

Individual ID 00437014
Associated disease DMD
Phenotype details see paper; ..., pregnancy complicated (threatened miscarriage first trimester, birth 38w-elective caesarean section, weight 3200 g (25-50th centile), length 51 cm (50-75th centile) , OFC 34.5 cm (50th centile), cyanosis, respiratory distress, delay acquisition physiological motor milestones; 7m-unable to hold his head/sit up unassisted; 10m-global developmental delay, high blood transaminases levels
Diagnosis/Initial -
Inheritance Familial, X-linked recessive
Diagnosis/Definite DMD;GKD;ID
Age/Examination -
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 19:34:57 +02:00 (CEST)
Date last edited N/A

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