Phenotype #0000180279

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00240125
Associated disease	SCAR
Phenotype details	SARA score: 13; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Scoliosis; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes
Diagnosis/Initial	cerebellar ataxia plus
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SCAR-8
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	20y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-06-11 13:42:08 +02:00 (CEST)
Date last edited	N/A

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