Conditions / Genetic

fucosidosis

info · Genetic · ICD-10: E77.1

Signs and symptoms

Hemiplegia
Angiokeratoma
Dystonia
Short stature
Flexion contracture
Hypotonia
Spastic gait
Hypertelorism
CNS hypomyelination
Muscle weakness

Also known as: A-fucosidase deficiency; alpha fucosidase deficiency