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Arts syndrome

rare

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.

Identifiers
MONDO:0010533 OMIM:301835Orphanet:1187
Causal genes
PRPS1
Part of
Hereditary diseaseSyndromic disease
Also known as
ARTS · Arts syndrome, X-linked recessive · lethal ataxia with deafness and optic atrophy · lethal ataxia-deafness-optic atrophy · mental retardation, X-linked, syndromic 18

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