Phenotype #0000216388

Individual ID 00281810
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details 4w-deceased; Apgars at birth 1,0; hypertrophic cardiomyopathy, cardiomegaly, corneal opacity, postnatal hypotonia, hypospadias, seizures; MRI-brain white matter changes, generalized reduction brain volume); 9d-abnormal MR spectroscopy (lactate peak); contractures; 22d-lactic acidosis, increased excretion of fumarate, malate
Inheritance Isolated (sporadic)
Age/Examination 00y00m28d (28 days)
Age/Diagnosis -
Age/Onset -
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 2020-02-03 20:47:36 +01:00 (CET)
Date last edited 2020-02-03 21:03:43 +01:00 (CET)

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