Phenotype #0000221964

Individual ID	00288227
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	anisocoria, ptosis, photophobia, tinnitus, scoliosis, muscle cramps, limb pain, muscle weakness, skeletal muscle atrophy, difficulty walking, distal lower limb amyotrophy, broad-based gait, sensory neuropathy, impaired vibratory sensation, severe sensorimotor polyneuropathy with predominantty axonal features, gait imbalance, steppage gait, areflexia, impaired proprioception, peripheral demyelination, demyelination around nerves in a muscle biopsy
Inheritance	Familial
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-02-16 14:03:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD