Phenotype #0000345925

Individual ID 00457461
Associated disease MTPD
Phenotype details see paper; ..., admitted for lethargy, hypotonia, hypomobility due to muscular pains, areflexia; mild hypoglycaemia; peripheral neuropathy, decreased sensitive nerve conduction velocity; 4m-hypoparathyroidism; 1y3m-rhabdomyolysis; 4m-peripheral polyneuropathy; hypotonia; liver dysfunction; hypoparathyroidism
Diagnosis/Initial mitochondrial trifunctional protein deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite MTPD2
Age/Examination -
Age/Diagnosis 00y04m
Age/Onset -
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 2024-11-12 22:32:59 +01:00 (CET)
Date last edited 2024-11-12 22:35:22 +01:00 (CET)

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