Arts syndrome OMIM mapping confirmed by DO. [SN]. 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. ORDO:1187 ARTS GARD:8756 Lethal ataxia with deafness and optic atrophy MESH:C535388 MRXSARTS OMIM:301835 UMLS_CUI:C0796028 SNOMEDCT_US_2020_03_01:702441001 disease_ontology DOID:0050647 MRXS18 fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type syndromic X-linked intellectual disability