Global Variome shared LOVD
MLST8 (MTOR associated protein, LST8 homolog (S. c...))
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Global Variome, with Curator vacancy
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Phenotype #0000001947
Individual ID
00003129
Associated disease
HDL2
Phenotype details
weight loss, dementia, psychiatric symptoms, dysarthria, no chorea, rigidity, dystonia, no action tremor, hyperreflexia, extensor plantars, primitive reflexes, bradykinesia, reduced movement, not ambulatory, no saccadic pursuit
Diagnosis/Initial
-
Inheritance
Familial, autosomal dominant
Diagnosis/Definite
-
Age/Examination
52y (52 years)
Age/Diagnosis
-
Age/Onset
35y
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2013-10-29 22:01:29 +01:00 (CET)
Date last edited
N/A
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