LEUKOENCEPHALOPATHY WITH ATAXIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615651
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001138) Optic neuropathy rare [HPO:skoehler] 12 / 7739
2
 (HPO:0000532) Chorioretinal abnormality rare [HPO:skoehler] 5 / 7739
3
 (HPO:0001123) Visual field defect rare [HPO:skoehler] 30 / 7739
4
 (HPO:0002315) Headache 175 / 7739
5
 (HPO:0002070) Limb ataxia 41 / 7739
6
 (HPO:0002066) Gait ataxia 327 / 7739
7
 (HPO:0002352) Leukoencephalopathy 32 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: