ICD-10: G23.1

monogenic disease philophthalmiasis Frasier syndrome bulbospinal polio electroclinical syndrome variable age at onset electroclinical syndrome PSAT deficiency neuroacanthocytosis Ogden syndrome akinetopsia Kennedy's disease dentatorubral-pallidoluysian atrophy ciliopathy Stormorken syndrome Vici syndrome chromosome 17p13.3 duplication syndrome stromal dystrophy MEDNIK syndrome Perry syndrome Kufor-Rakeb syndrome ataxia with oculomotor apraxia type 3 3MC syndrome 1 Nance-Horan syndrome Miles-Carpenter syndrome progressive supranuclear palsy