SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 615658
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:0000648) Optic atrophy 238 / 7739
2
(HPO:0000572) Visual loss 272 / 7739
3
(HPO:0001258) Spastic paraplegia 97 / 7739
4
(HPO:0001347) Hyperreflexia 363 / 7739
5
(HPO:0003487) Babinski sign 179 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: