Belgian Genetic Tests database
Lethal ataxia with deafness and optic atrophy
| Name: |
Lethal ataxia with deafness and optic atrophy
|
| 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.
|
| ORPHAcode: |
1187
|
| Synonyms: |
Arts syndrome
Lethal ataxia with hearing loss and optic atrophy
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|