Phenotype #0000216384

Individual ID 00281806
Associated disease ?
Diagnosis/Initial fetal akinesia
Diagnosis/Definite -
Phenotype details 3d-deceased; Apgars at birth 3; hypertrophic cardiomyopathy, congenital
cataracts, corneal opacity, postnatal hypotonia, cryptorchidism, micropenis, seizures, encephalopathy, fetal akinesia; increased excretion of fumarate, malate, 2-ketoglutarate, 3-methylglutaconate, and 3-methylglutarate
Inheritance Isolated (sporadic)
Age/Examination 00y00m03d (3 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 20:53:05 +01:00 (CET)

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