Phenotype #0000326677

Individual ID	00436499
Associated disease	COXPD
Phenotype details	see paper; ..., 7m-deceased, no facial dysmorphology; no limb dysmorphology; lethargy, anorexia, hypotonia; respiratory failure; cardiac failure; hemorrhagic pancreatitis; no cerebral infarction; renal failure; disseminated intravascular coagulation; seizures; no mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); hypoglycemia; increased lactate; increased aspartate aminotransferase; increased amylase; increased creatine kinase; increased plasma amino acid concentration (most amino acids); urine organic acids; no 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
Created by	Johan den Dunnen
Date created	2023-09-19 15:46:35 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD