Phenotype #0000326682

Individual ID	00436504
Associated disease	COXPD
Phenotype details	see paper; ..., lethargy, hypotonia; no respiratory failure; no cerebral infraction; no seizures; no cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; no disseminated intravascular coagulation; no hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Glycine; elevated urine organic acids (lactate, ethylmalonic, ketones, 3-methyllgutaconic)
Diagnosis/Initial	mitochondrial disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	COXPD52
Age/Examination	6y (6 years)
Age/Onset	1m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-09-19 16:31:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD