Phenotype #0000351749

Individual ID 00466385
Associated disease PDHAD
Phenotype details see paper; ..., 16d-deceased; uneventful pregnancy, born at term, acute fetal distress; 1d-hypotonia, bradycardia, abnormal movements, metabolic acidosis; MRI cerebral asymmetrical parieto-occipital T2 hypersignals, meningeal hemorragia
Diagnosis/Initial metabolic acidosis
Inheritance Isolated (sporadic)
Diagnosis/Definite PDHAD
Age/Examination 00y00m16d (16 days)
Age/Diagnosis -
Age/Onset 00y00m01d
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 2025-08-27 10:02:50 +02:00 (CEST)
Date last edited 2025-08-27 10:20:25 +02:00 (CEST)

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