Phenotype #0000053372

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073635
Associated disease	MYOP
Phenotype details	Muscular hypotrophy, cognitive and psychomotor delay, epilepsy, congenital cataract, scoliosis, lactic acidosis and deficiency of the mitochondrial respiratory chain
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y09m
Phenotype/Onset	-
Protein	-
Owner name	Sophie Nambot
Database submission license	No license selected
Created by	Sophie Nambot
Date created	2016-06-13 10:55:05 +02:00 (CEST)
Date last edited	2016-06-17 11:23:56 +02:00 (CEST)

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