Phenotype #0000203896

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00266116
Associated disease	IMD
Phenotype details	lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal, sensory evoked potential normal
Diagnosis/Initial	hereditary spastic paraplegias
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SPG-76
Age/Examination	54y (54 years)
Age/Onset	15y
Phenotype/Onset	gait difficulty
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-10-14 08:02:21 +02:00 (CEST)
Date last edited	N/A

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