Phenotype #0000361379

Individual ID 00476705
Associated disease mitochondrial
Diagnosis/Initial mitochondrial disease
Diagnosis/Definite COXPD37
Phenotype details see paper; ..., cardiomyopathy; gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; urine organic acid analysis mitochondrial disease-related excretion; no ragged red fibers; cranial MRI T2W sagittal seq, atrophy of the cerebellum, brainstem, and corpus callosum, T2W hyperintensities periventricular deep white matter
Inheritance Familial, autosomal recessive
Age/Examination 1y (1 year)
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

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.