Delays in development of some physical, psychological and behavioral skills; progressive enlargement of the head (macrocephaly), seizures, spasticity, and in some cases also hydrocephalus, idiopathic intracranial hypertension, and dementia.
Alexander disease
Leber's hereditary optic neuropathy
Kjer's optic neuropathy
Corneal-cerebellar syndrome
Graves' ophthalmopathy
Neuromyelitis optica spectrum disorder
Ocular myasthenia
Bosch-Boonstra-Schaaf optic atrophy syndrome