Phenotype #0000129974

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00163008
Associated disease	AHC1
Phenotype details	Dystonia, Abnormal eye movement, quadriplegia, automatic dysfunction, dysphagia, dysarthria, and developmental delay
Diagnosis/Initial	AHC
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	AHC
Age/Examination	08y (8 years)
Age/Diagnosis	08y
Age/Onset	00y03m
Phenotype/Onset	dystonia
Protein	-
Owner name	Xiaoxu Yang
Database submission license	No license selected
Created by	Xiaoxu Yang
Date created	2018-06-24 19:07:47 +02:00 (CEST)
Date last edited	2018-06-26 09:06:59 +02:00 (CEST)

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