Onset : Early childhood Progression: Chronic progressive Clinical: Cerebellar ataxia plus syndrome / Optic Atrophy Plus Syndrome Ocular: Optic atrophy, nystagmus, scotoma, and bilateral retrobulbar neuritis. Other: Mental retardation, myoclonic epilepsy, spasticity, and posterior column sensory loss. Tremor in some cases. Musculoskeletal Contractures, lower limbs, Achilles tendon contractures, Hamstring contractures, Adductor longus contractures Systemic Hypogonadotrophic hypogonadism.
Behr syndrome
Wilson's temperature syndrome
Wellens' syndrome
Zaki syndrome
Fowler's syndrome
Karak syndrome
Hashimoto's encephalopathy
Menke-Hennekam syndrome