Phenotype #0000292917

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00399377
Associated disease	MTDPS
Diagnosis/Initial	progressive dystonic features
Diagnosis/Definite	MTDPS17
Phenotype details	tip-toe walking, high frequency tremors, severe early-onset generalized dystonia
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Anum Shafique
Database submission license
Created by	Anum Shafique
Date created	2022-01-20 07:31:39 +01:00 (CET)
Date last edited	2022-01-24 10:05:59 +01:00 (CET)

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