Phenotype #0000180272

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00240118
Associated disease	SCAR
Phenotype details	SARA score: 8; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; dysfunction lower motor neuron; Pes cavus; MRI cerebellar atrophy; no peripheral neuropathy; MEOS abnormal upper and lower limb
Diagnosis/Initial	cerebellar ataxia plus
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SCAR-8
Age/Examination	29y (29 years)
Age/Diagnosis	-
Age/Onset	15y
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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