Phenotype #0000345961

Individual ID 00457497
Associated disease MTPD
Phenotype details see paper; ..., 35w-delivered by emergent cesarean section for fetal distress, required brief respiratory support; 4m-viral upper respiratory infection with vomiting, irritability, decreased oral intake, rapidly lethargic, developed coma with hypoglycemia/metabolic acidosis
Diagnosis/Initial mitochondrial trifunctional protein deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite MTPD1
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 2024-11-13 16:27:05 +01:00 (CET)
Date last edited N/A

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