Term Name: | Arts syndrome |
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Synonyms: | ARTS, fatal X-linked ataxia with deafness and loss of vision, Lethal ataxia with deafness and optic atrophy, MRXS18, MRXSARTS, syndromic X-linked mental retardation 18, syndromic X-linked mental retardation Arts type |
Definition: | 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. |
Ontology: | Human Disease [DOID:0050647] ( DOID:0050647 ) |