Phenotype #0000171779

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00226667
Associated disease	THMD
Diagnosis/Initial	Leigh Syndrome
Diagnosis/Definite	THMD-5
Phenotype details	spasticity; neuroimaging abnormalities: cerebellum-dentate; outcome: spasticity, movement disorder, microcephaly, intellectual disability
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	2y6m
Phenotype/Onset	viral infection
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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