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Arts syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0010533:  Arts syndrome
GARD:0008756: 
MESH:C535388: 
Orphanet:1187: 
SCTID:702441001: 
UMLS:C0796028: