Global Variome shared LOVD

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Phenotype #0000345968 Individual ID 00457504 Associated disease MTPD Phenotype details see paper; ..., early milestones slightly delayed; 14m-recurrent afebrile convulsion, limbs/trunk hypotonia Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination 01y09m (1 year, 9 months) 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 2024-11-13 19:17:19 +01:00 (CET) Date last edited N/A

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