Phenotype #0000267001

Individual ID	00371664
Associated disease	SPOAN
Diagnosis/Initial	spastic paraplegia, optic atrophy, neuropathy
Diagnosis/Definite	SPOAN
Phenotype details	progressive spastic paraplegia in infancy, progressive motor and sensory axonal neuropathy in late childhood/early adolescence leading to severe motor disability; >15y-wheelchair bound, progressive joint contractures, spine deformities; subnormal vision secondary to apparently non-progressive congenital optic atrophy, dysarthria starting third decade of life, exacerbated acoustic startle response; no intellectual disability
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-04 09:05:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD