Phenotype #0000171746

Individual ID 00226634
Associated disease THMD
Diagnosis/Initial Leigh Syndrome
Diagnosis/Definite THMD-2
Phenotype details encephalopathy, hypotonia, dystonia, opistothonus, spasticity; neuroimaging abnormalities: putamen, globus pallidus, thalamus, corticosubcortical, brainstem; 2m-deceased
Inheritance Familial, autosomal recessive
Age/Examination 2m
Age/Diagnosis -
Age/Onset 1m
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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