Conditions / Genetic
Arts syndrome
info · Genetic
An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mut
An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
Signs and symptoms
- Visual loss
- Progressive muscle weakness
- Dysphagia
- Hearing impairment
- Absent speech
- Seizure
- Global developmental delay
- Ataxia
- Areflexia
- Recurrent infections
Also known as: ARTS; Lethal ataxia with deafness and optic atrophy; MRXS18; MRXSARTS; fatal X-linked ataxia with deafness and loss of vision