Males show more serious symptoms than females affected by this disorder.The symptoms for males are: * Profound sensorineural hearing loss i.e, a complete or almost complete loss of hearing caused by abnormalities in the inner ear. * Weak muscle tone - Hypotonia. * Impaired muscle coordination - Ataxia. * Developmental delay. * Intellectual disability. * Vision loss caused by optic nerve atrophy in early childhood. * Peripheral neuropathy. * Recurrent infections, especially in the respiratory system. * Muscle weakness caused by recurrent infections. Symptoms for females: Very rarely seen hearing loss that begins in adulthood (age > 20 years) combined with ataxia and neuropathy. Optic atrophy and retinitis pigmentosa observed in some cases too.
Arts syndrome
Saal Greenstein syndrome
Crandall syndrome
Havana syndrome
Mietens syndrome
PAPA syndrome
Currarino syndrome
Bruck syndrome