Phenotype #0000357431

Individual ID	00472635
Associated disease	?
Diagnosis/Initial	hereditary spastic paraparesis
Diagnosis/Definite	SPAX10
Phenotype details	see paper; ..., no spasticity upper extremity, spasticity lower extremity; no hyperreflexia upper extremity, hyperreflexia lower extremity; no Babinski sign; no pareses; able to walk, no running; mild saccadic eye movement; mild ataxia; mild dysarthria; mild intellectual disability; no postural tremor (hands)
Inheritance	Familial, autosomal recessive
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	15y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-02-24 16:08:50 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD