Term Name
Arts syndrome
External Reference
Synonyms
MRXS18, syndromic X-linked intellectual disability 18, ARTS, syndromic X-linked intellectual disability Arts type, Arts syndrome, Arts, lethal ataxia with deafness and optic atrophy, MRXSARTS, syndromic X-linked mental retardation Arts type, syndromic X-linked mental retardation 18, Arts syndrome, X-linked recessive, fatal X-linked ataxia with deafness and loss of vision
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.