Phenotype #0000231994

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00306150
Associated disease	ECHS1D
Phenotype details	regression metabolic decompensations nystagmus MRI-Leigh syndrome truncal hypotonia, hypertonia in extremities lactic acidosis non ambulatory
Diagnosis/Initial	Mitochondrial Disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ECHS1 disease
Age/Examination	08y (8 years)
Age/Diagnosis	08y
Age/Onset	00y08m
Phenotype/Onset	8m
Protein	Has enzymatic studies confirming ECHS1 disease
Owner name	Mariella Simon
Database submission license	No license selected
Created by	Mariella Simon
Date created	2020-07-09 01:00:22 +02:00 (CEST)
Date last edited	2020-07-09 14:18:10 +02:00 (CEST)