Phenotype #0000332784

Individual ID	00443443
Associated disease	?
Diagnosis/Initial	walking difficulties
Diagnosis/Definite	-
Phenotype details	see paper; ..., 45y-progressing walking difficulties, resulting in inability to run, give up playing golf; stiffness, difficulty in walking/running, recurrent falls; 68y-bilateral spastic paraplegia lower limbs associated with pyramidal weakness, brisk reflexes, upward plantars, neurogenic bladder/bowel, able to mobilize independently, uses functional electrical stimulator
Inheritance	Familial, autosomal recessive
Age/Examination	68y (68 years)
Age/Diagnosis	-
Age/Onset	45y
Phenotype/Onset	walking difficulties
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-26 14:02:01 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD