CHOREOATHETOSIS, FAMILIAL INVERTED

General Information (adopted from Orphanet):

Synonyms, Signs: INFANTILE CHOREOATHETOSIS OF FISHER
Number of Symptoms 11
OrphanetNr:
OMIM Id: 118750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002063) Rigidity 92 / 7739
2
 (HPO:0000726) Dementia 131 / 7739
3
 (HPO:0007326) Progressive choreoathetosis 2 / 7739
4
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0001288) Gait disturbance 318 / 7739
7
 (OMIM) No dementia, seizures, or rigidity 1 / 7739
8
 (OMIM) Occasional pyramidal tract signs 1 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
 (HPO:0003593) Infantile onset 249 / 7739
11
 (OMIM) Predominant leg involvement 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: