Phenotype #0000203567

Global Variome shared LOVD

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

Individual ID	00265781
Associated disease	MC4DN
Phenotype details	hypotonia, muscle weakness, facial weakness, high arched palate, respiratory disorder; ECG cardiomyopathy; myopatholgy no ragged red fiber, uniformly decreased cytochrome C oxidase, lipid droplets
Diagnosis/Initial	cytochrome C oxidase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y00m00d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-10-05 14:51:47 +02:00 (CEST)
Date last edited	2019-10-05 14:58:05 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.