OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 27
OrphanetNr:
OMIM Id: 258650
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:0000505) Visual impairment 297 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000618) Blindness 124 / 7739
5
 (HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
6
 (HPO:0002403) Positive Romberg sign 11 / 7739
7
 (HPO:0002136) Broad-based gait 30 / 7739
8
 (HPO:0002936) Distal sensory impairment 96 / 7739
9
 (HPO:0002066) Gait ataxia 327 / 7739
10
 (HPO:0001284) Areflexia 198 / 7739
11
 (HPO:0011096) Peripheral demyelination 28 / 7739
12
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
13
 (HPO:0009487) Ulnar deviation of the hand 5 / 7739
14
 (HPO:0000767) Pectus excavatum 244 / 7739
15
 (HPO:0009778) Short thumb 50 / 7739
16
 (HPO:0002943) Thoracic scoliosis 12 / 7739
17
 (HPO:0009473) Joint contracture of the hand 84 / 7739
18
 (HPO:0007149) Distal upper limb amyotrophy 4 / 7739
19
 (HPO:0002460) Distal muscle weakness 122 / 7739
20
 (OMIM) Flexed fingers 3 / 7739
21
 (HPO:0003828) Variable expressivity 130 / 7739
22
 (OMIM) Sural nerve biopsy shows mild demyelination 1 / 7739
23
 (OMIM) Subluxed hand joints 1 / 7739
24
 (OMIM) Distal muscle atrophy, more severe in the upper limbs 1 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (OMIM) Onset of neurologic symptoms in teenage years 1 / 7739
27
 (OMIM) Normal nerve conduction velocities 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: