Phenotype #0000351755

Individual ID 00466391
Associated disease ?
Diagnosis/Initial failure to thrive, axial hypotonia
Diagnosis/Definite PDHAD
Phenotype details see paper; ..., uneventful pregnancy, born at term; 1m-failure to thrive, axial hypotonia; 2m-2 episodes postprandial loss of consciousness with seizures; high levels lactate blood; mild spasticity
Inheritance Isolated (sporadic)
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset 00y01m
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2025-08-27 10:25:21 +02:00 (CEST)
Date last edited N/A

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