Phenotype #0000050866

Individual ID	00064666
Associated disease	SPG
Phenotype details	see paper; ..., age onset 35/36/22/39/24y, lower-extremity spasticity (5), lower-extremity weakness (3), lower-extremity hyperreflexia (5), extensor plantar response (4), no abnormal bladder function, foot deformity (3), dysarthria (5), upper extremity hyperreflexia (5), sensory abnormalities (1), peripheral neuropathy (2), gait ataxia (1), upper extremity ataxia (1), scoliosis (1), amyotrophy (2), ocular movement abnormalities (1)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-05-07 21:33:54 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD