Phenotype #0000223995

Individual ID 00296589
Associated disease ?
Diagnosis/Initial multiple mitochondrial respiratory chain complex deficiency
Diagnosis/Definite -
Phenotype details deceased; muscle not affected; central nervous system not affected; heart not affected; liver not affected; Exercise intolerance, sideroblastic anaemia, lactic acidosis
Inheritance Familial, autosomal recessive
Age/Examination 37y (37 years)
Age/Diagnosis -
Age/Onset 14y
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2020-04-08 15:05:07 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) 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.