Phenotype #0000358251

Individual ID	00473456
Associated disease	paraplegia
Diagnosis/Initial	hereditary paraplegia
Diagnosis/Definite	-
Phenotype details	sporadic case, age 42y , started 37y with spastic paraparesia, walking difficulty, hyperreflexia, toe- heel walking inability, gait abnormality, EDX is compatible with bilateral mild CTS with no evidence of myopathy or neuropathy process, normal CPK and history of hereditary colorectal cancer (Lynch syndrome)
Inheritance	Familial, autosomal recessive
Age/Examination	42y (42 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD