Olivopontocerebellar atrophy - deafness

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 2732
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
2
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
3
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
4
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
5
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
6
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
7
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
8
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
9
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
10
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
11
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
12
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
13
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
14
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: