Lethal ataxia with deafness and optic atrophy

Orpha code: 1187OMIM code: 301835

Definition

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.

Disease data
Classification

Disease

Synonyms
Arts syndrome
Zespół Artsa
Lethal ataxia with hearing loss and optic atrophy
ORPHA code
1187
OMIM code
301835
ICD10 code
E79.8
ICD11 code
LD2H.Y

No additional description.

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