Also known as Lethal ataxia with deafness and optic atrophy, ARTS, MRXS18, MRXSARTS, fatal X-linked ataxia with deafness and loss of vision, syndromic X-linked mental retardation 18, syndromic X-linked mental retardation Arts type, Lethal ataxia-deafness-optic atrophy
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
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).