Phenotype #0000129978

Global Variome shared LOVD

LOVD v.3.0 Build 29 [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00163012
Associated disease	AHC1
Phenotype details	Abnormal eye movement, dystonia, epilepsy, and developmental delay.
Diagnosis/Initial	AHC
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	AHC
Age/Examination	02y (2 years)
Age/Diagnosis	02y
Age/Onset	00y02m
Phenotype/Onset	Abnormal eye movement
Protein	-
Owner name	Xiaoxu Yang
Database submission license	No license selected
Created by	Xiaoxu Yang