SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs: SPAR
Number of Symptoms 20
OrphanetNr:
OMIM Id: 607565
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000012) Urinary urgency 35 / 7739
2
 (HPO:0002839) Urinary bladder sphincter dysfunction 34 / 7739
3
 (HPO:0000020) Urinary incontinence 75 / 7739
4
 (HPO:0000496) Abnormality of eye movement 79 / 7739
5
 (HPO:0001347) Hyperreflexia 363 / 7739
6
 (HPO:0011448) Ankle clonus 31 / 7739
7
 (HPO:0003487) Babinski sign 179 / 7739
8
 (HPO:0002061) Lower limb spasticity 56 / 7739
9
 (HPO:0001332) Dystonia 197 / 7739
10
 (HPO:0001260) Dysarthria 329 / 7739
11
 (HPO:0001251) Ataxia 413 / 7739
12
 (HPO:0002064) Spastic gait 46 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0011449) Knee clonus 10 / 7739
15
 (HPO:0002166) Impaired vibration sensation in the lower limbs 26 / 7739
16
 (HPO:0001258) Spastic paraplegia 97 / 7739
17
 (HPO:0007340) Lower limb muscle weakness 61 / 7739
18
 (HPO:0003812) Phenotypic variability 129 / 7739
19
 (HPO:0001272) Cerebellar atrophy 197 / 7739
20
 (OMIM) Ankle and patellar clonus 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: