Arts syndrome
Arts syndrome
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.
Also known as ARTS, Arts syndrome, Arts syndrome, X-linked recessive, lethal ataxia with deafness and optic atrophy, MRXS18, MRXSARTS, syndromic X-linked intellectual disability 18, syndromic X-linked intellectual disability Arts type — per MONDO