Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000326678 Individual ID 00436500 Associated disease COXPD Phenotype details see paper; ..., 7m-deceased, no facial dysmorphology; no limb dysmorphology; lethargy, anorexia, hypotonia; respiratory failure; cardiac failure; no hemorrhagic pancreatitis; 15w-cerebral infarction; renal failure; disseminated intravascular coagulation; seizures; no mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); hypoglycemia; increased lactate; increased aspartate aminotransferase; normal amylase; increased creatine kinase; increased plasma amino acid concentration; normal urine organic acids; amino aciduria; metabolic acidosis Diagnosis/Initial infantile mitochondrial complex II/III deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite COXPD52 Age/Examination 00y07m (7 months) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-09-19 16:00:06 +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.