Phenotype #0000345923

Individual ID 00457459
Associated disease MTPD
Phenotype details see paper; ..., 35d-hypoparathyroidism; 2y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction
Diagnosis/Initial mitochondrial trifunctional protein deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite MTPD2
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset 02y
Phenotype/Onset rhabdomyolysis
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 22:20:21 +01:00 (CET)
Date last edited 2024-11-16 16:44:20 +01:00 (CET)

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