Phenotype #0000269728

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00374518
Associated disease	?
Diagnosis/Initial	Leigh syndrome
Diagnosis/Definite	-
Phenotype details	Hypotonia in upper and lower limbs, developmental delay, mild facial dysmorphism and decreased reflexes. MRI showed bilateral cerebellar subcortical white matter with bilateral caudate lentiform
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-24 20:06:48 +02:00 (CEST)
Date last edited	N/A

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