PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, ANDSPONGY DEGENERATION OF BRAIN

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 260970
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001251) Ataxia 413 / 7739
2
 (HPO:0006976) Necrotizing encephalopathy 2 / 7739
3
 (HPO:0009830) Peripheral neuropathy 206 / 7739
4
 (HPO:0007267) Chronic axonal neuropathy 5 / 7739
5
 (HPO:0001271) Polyneuropathy 56 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) Spongy degeneration of brain 1 / 7739
8
 (HPO:0007313) Cerebral degeneration 4 / 7739
9
 (OMIM) Axonal defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: