Phenotype #0000170584

Individual ID	00225469
Associated disease	-
Phenotype details	birth normal; early development normal; speech delayed; normal; mild intellectual disability; EEG normal; 15y-MRI mild cerebellar vermis atrophy, spinal cord atrophy; axonal polyneuropathy; 10y-unsteady gait; phenotype exacerbated by illness and/or stress; distal muscle atrophy, pes cavus deformity, toe abnormality, scoliosis, brisk deep-tendon reflexs, positive Babinski reflex, intentional tremor, ataxia
Diagnosis/Initial	neurodegenerative disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CONDSIAS
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-02-17 09:44:27 +01:00 (CET)
Date last edited	2021-12-08 21:14:06 +01:00 (CET)

Global Variome shared LOVD