Lethal ataxia with deafness and optic atrophy

Orpha code: 1187OMIM code: 301835

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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