AMYOTROPHIC DYSTONIC PARAPLEGIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 105300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence 75 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0001332) Dystonia 197 / 7739
4
 (HPO:0001258) Spastic paraplegia 97 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0002607) Bowel incontinence 33 / 7739
7
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: