Phenotype #0000321830

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00431225
Associated disease	MYOP
Phenotype details	no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; no hyperammonemia
Diagnosis/Initial	encephalomyopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MECREN
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-04 16:19:44 +01:00 (CET)
Date last edited	N/A

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