Phenotype #0000345920

Individual ID 00457456
Associated disease MTPD
Phenotype details see paper; ..., 8d-deceased; cardiomyopathy, respiratory distress, hypoglycemia, hyperammonemia, metabolic acidosis, liver dysfunction
Diagnosis/Initial mitochondrial trifunctional protein deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite MTPD2
Age/Examination -
Age/Diagnosis -
Age/Onset 00y00m00d
Phenotype/Onset respiratory failure
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 2024-11-12 21:26:12 +01:00 (CET)
Date last edited 2024-11-16 16:30:08 +01:00 (CET)

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