Phenotype #0000180478

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00240414
Associated disease	DYT
Diagnosis/Initial	dystonia
Diagnosis/Definite	DYTOABG
Phenotype details	see paper; …, 23m-onset dystonia; 6y-onset optic atrophy; deterioration linguistic skills and executive functions to extremely low range (9y); MRI bilateral hyperintense pallidal T2 signal with cavitation and lactate peak on MRS
Inheritance	Familial, autosomal recessive
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	00y23m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-06-19 19:58:50 +02:00 (CEST)
Date last edited	2019-06-19 20:48:17 +02:00 (CEST)

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