Usher syndrome type 3

General Information (adopted from Orphanet):

Synonyms, Signs: USH3
Number of Symptoms 18
OrphanetNr: 231183
OMIM Id: 276902
500004
614504
ICD-10: H35.5
UMLs: C1568248
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Usher syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001123) Visual field defect Very frequent [Orphanet] Frequent [HPO:probinson] 30 / 7739
2
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
3
 (HPO:0000512) Abnormal electroretinogram Very frequent [Orphanet] 61 / 7739
4
 (HPO:0000483) Astigmatism Frequent [Orphanet] 67 / 7739
5
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
6
 (HPO:0007663) Reduced visual acuity 100 / 7739
7
 (HPO:0000504) Abnormality of vision Very frequent [Orphanet] 22 / 7739
8
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
9
 (HPO:0000662) Nyctalopia 92 / 7739
10
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 99 / 7739
11
 (HPO:0011390) Morphological abnormality of the inner ear Very frequent [Orphanet] 21 / 7739
12
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] Frequent [HPO:probinson] 524 / 7739
13
 (HPO:0001751) Vestibular dysfunction Frequent [HPO:probinson] 19 / 7739
14
 (HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
15
 (HPO:0000738) Hallucinations Occasional [Orphanet] 60 / 7739
16
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
17
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: