Phenotype #0000129972

Global Variome shared LOVD

LOVD v.3.0 Build 29 [ Current LOVD status ]
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Individual ID	00155762
Associated disease	AHC1
Phenotype details	Abnormal eye movement, dystonia, slight developmental delay
Diagnosis/Initial	AHC
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	AHC
Age/Examination	03y (3 years)
Age/Diagnosis	03y
Age/Onset	00y05m
Phenotype/Onset	Abnormal eye movement
Protein	-
Owner name	Xiaoxu Yang
Database submission license	No license selected
Created by	Xiaoxu Yang