Phenotype #0000302838

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00410747
Associated disease	SCAR
Phenotype details	see paper; ..., developmental delay, microcephaly, failure to thrive, difficulty keeping balance, ataxic gait, seizures/epilepsy, hypotonia, neutropenia, cardiac arrhythmia, fatigability
Diagnosis/Initial	spinocerebellar ataxia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SCAR23
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	<00y05m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-05-30 11:14:58 +02:00 (CEST)
Date last edited	2022-05-30 11:19:47 +02:00 (CEST)

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