Phenotype #0000361372

Individual ID 00476698
Associated disease mitochondrial
Diagnosis/Initial mitochondrial disease
Diagnosis/Definite COXPD12
Phenotype details see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; urine organic acid analysis mitochondrial disease-related excretion; ragged red fibers; mitochondrial myopathy; cranial MRI T2-weighted hyperintensities in dentate nucleus, thalamus, and periventricular deep white matter
Inheritance Familial, autosomal recessive
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset -
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 2026-04-16 19:04:47 +02:00 (CEST)
Date last edited N/A

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