Phenotype #0000171708

Individual ID 00226596
Associated disease THMD
Diagnosis/Initial biotin responsive basal ganglia disease
Diagnosis/Definite THMD-2
Phenotype details encephalopathy, hypotonia, tremor, dystonia, S ophtalmoplegia, dysarthria, dysphagia, respiratory failure, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, lactate on MRS; outcome: spasticity, intellectual disability, dystonia
Inheritance Familial, autosomal recessive
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset 13y
Phenotype/Onset viral infection
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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