Phenotype #0000332777

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00443436
Associated disease	?
Diagnosis/Initial	ataxia with oculomotor apraxia
Diagnosis/Definite	EAOH
Phenotype details	progressive loss of ambulation, intellectual disability
Inheritance	Familial, autosomal recessive
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	15y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-26 13:31:49 +01:00 (CET)
Date last edited	N/A

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