Phenotype #0000170588

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00225473
Associated disease	-
Phenotype details	see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy
Diagnosis/Initial	neurodegeneration
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CONDSIAS
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-02-17 10:15:34 +01:00 (CET)
Date last edited	2020-04-21 09:21:43 +02:00 (CEST)

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