OPTICOCOCHLEODENTATE DEGENERATION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 258700
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:0000572) Visual loss 272 / 7739
2
 (HPO:0000648) Optic atrophy 238 / 7739
3
 (HPO:0005102) Cochlear degeneration 5 / 7739
4
 (HPO:0000365) Hearing impairment 539 / 7739
5
 (HPO:0001257) Spasticity 251 / 7739
6
 (HPO:0001344) Absent speech 57 / 7739
7
 (HPO:0001268) Mental deterioration 88 / 7739
8
 (HPO:0002510) Spastic tetraplegia 54 / 7739
9
 (OMIM) Optic degeneration 2 / 7739
10
 (OMIM) Dentate degeneration 1 / 7739
11
 (OMIM) Medial lemniscal degeneration 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: