Term Name
Arts syndrome
External Reference
Synonyms
lethal ataxia with deafness and optic atrophy, Arts syndrome, Arts, ARTS, MRXSARTS, syndromic X-linked mental retardation Arts type, syndromic X-linked intellectual disability 18, fatal X-linked ataxia with deafness and loss of vision, syndromic X-linked mental retardation 18, Arts syndrome, X-linked recessive, syndromic X-linked intellectual disability Arts type, MRXS18
Definition
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.