Phenotype #0000347741

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00460015
Associated disease	MITCH
Diagnosis/Initial	progressive sensorineural deafness
Diagnosis/Definite	MITCH
Phenotype details	see paper; ..., ,progressive sensorineural deafness visual abnormalities, skin ichthyosis; infantile age gait ataxia, progressive worsening, 10y-loss of walking
Inheritance	Unknown
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-15 17:17:38 +01:00 (CET)
Date last edited	N/A

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