CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS

General Information (adopted from Orphanet):

Synonyms, Signs: CAPOS
Number of Symptoms 24
OrphanetNr:
OMIM Id: 601338
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:0000618) Blindness 124 / 7739
2
 (HPO:0000572) Visual loss 272 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0000648) Optic atrophy 238 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
 (HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
7
 (HPO:0009830) Peripheral neuropathy 206 / 7739
8
 (HPO:0002066) Gait ataxia 327 / 7739
9
 (HPO:0001332) Dystonia 197 / 7739
10
 (HPO:0001269) Hemiparesis 51 / 7739
11
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
12
 (HPO:0002078) Truncal ataxia 41 / 7739
13
 (HPO:0001310) Dysmetria 76 / 7739
14
 (HPO:0007178) Motor polyneuropathy 31 / 7739
15
 (HPO:0001284) Areflexia 198 / 7739
16
 (HPO:0001260) Dysarthria 329 / 7739
17
 (HPO:0002131) Episodic ataxia 16 / 7739
18
 (HPO:0001761) Pes cavus 225 / 7739
19
 (HPO:0001324) Muscle weakness 859 / 7739
20
 (HPO:0006852) Episodic generalized hypotonia 1 / 7739
21
 (OMIM) Pes cavus deformity 1 / 7739
22
 (OMIM) Normal cranial MRI 1 / 7739
23
 (OMIM) Progressive optic atrophy 1 / 7739
24
 (OMIM) Relapsing, early onset cerebellar ataxia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: