CEREBELLOPARENCHYMAL DISORDER II

General Information (adopted from Orphanet):

Synonyms, Signs: CPD, LATE-ONSET RECESSIVE TYPE
CPD2
Number of Symptoms 10
OrphanetNr:
OMIM Id: 213100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002317) Unsteady gait 45 / 7739
2
(HPO:0001260) Dysarthria 329 / 7739
3
(HPO:0001251) Ataxia 413 / 7739
4
(HPO:0001250) Seizures Occasional [HPO:skoehler] 1245 / 7739
5
(OMIM) Seizures in some cases 1 / 7739
6
(OMIM) Mild loss of granule cells and dentate neurons 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Inferior olivary nuclei and ponse normal 1 / 7739
9
(OMIM) Absent Purkinje cells 1 / 7739
10
(OMIM) Speech disturbance 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: