Disease-gene associations mined from literature

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