Phenotype #0000129981

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00163015
Associated disease	AHC1
Phenotype details	Dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, respiritary disturbance, and slight developmental delay
Diagnosis/Initial	AHC
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	AHC
Age/Examination	01y (1 year)
Age/Diagnosis	01y
Age/Onset	00y01m
Phenotype/Onset	dystonia
Protein	-
Owner name	Xiaoxu Yang
Database submission license	No license selected
Created by	Xiaoxu Yang
Date created	2018-06-24 19:28:06 +02:00 (CEST)
Date last edited	2018-06-26 09:07:49 +02:00 (CEST)

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