Phenotype #0000171749

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00226637
Associated disease	THMD
Diagnosis/Initial	Leigh Syndrome
Diagnosis/Definite	THMD-2
Phenotype details	encephalopathy, hypotonia, tremor, dystonia, status dystonicus, opistothonus; neuroimaging abnormalities: caudate, putamen, globus pallidus, thalamus, corticosubcortical, cerebellum, brainstem; 3y6m-deceased
Inheritance	Familial, autosomal recessive
Age/Examination	3y6m (3 years, 6 months)
Age/Diagnosis	-
Age/Onset	3m15d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-03-09 21:20:59 +01:00 (CET)
Date last edited	N/A

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