Term Name: Arts syndrome
Synonyms: ARTS, fatal X-linked ataxia with deafness and loss of vision, Lethal ataxia with deafness and optic atrophy, MRXS18, MRXSARTS, syndromic X-linked mental retardation 18, syndromic X-linked mental retardation Arts type
Definition: 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.
Ontology: Human Disease [DOID:0050647]   ( DOID:0050647 )

Relationships
is a type of: syndromic X-linked intellectual disability