ATP2B3

Clinical Characteristics

The main clinical characteristics of ATP2B3-related ataxia include:
•    Neonatal hypotonia
•    Psychomotor delay
•    Strabismus
•    Nystagmus
•    Dysarthria
•    Dysmetria
•    Dysdiadochokinesia
•    Ataxic gait (non-progressive)
Dystonia and Head titubation have been reported in one family