SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615625
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:0002839) Urinary bladder sphincter dysfunction rare [HPO:skoehler] 34 / 7739
2
(HPO:0003487) Babinski sign 179 / 7739
3
(HPO:0001347) Hyperreflexia 363 / 7739
4
(HPO:0001258) Spastic paraplegia 97 / 7739
5
(HPO:0002064) Spastic gait 46 / 7739
6
(HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
7
(HPO:0003552) Muscle stiffness 23 / 7739
8
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: