Human genes for Arts syndrome
Arts syndrome [DOID:0050647]
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.
Synonyms: Arts syndrome, Arts disease, Arts disorder, Arts syndromes, DOID:0050647 ...
Linkouts: OMIM