Global Variome shared LOVD

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Phenotype #0000346400 Individual ID 00457950 Associated disease MTPD Phenotype details see paper; ..., neonatal-onset cardiomyopathy, rhabdomyolysis, hypoglycemia, lactic acidosis, tachypnea, tachycardia, hypothermia, transient hypotonia, epilepsy, delayed gross motor skills; very extensive phenotype follow-up Diagnosis/Initial LCKAT deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination 01y01m (1 year, 1 month) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-22 13:13:34 +01:00 (CET) Date last edited N/A

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