USHER SYNDROME, TYPE IK
General Information (adopted from Orphanet):
| Synonyms, Signs: |
USH1K |
| Number of Symptoms | 9 |
| OrphanetNr: | |
| OMIM Id: |
614990
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
Congenital onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000510) | Rod-cone dystrophy | 266 / 7739 | ||||
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(HPO:0001751) | Vestibular dysfunction | 19 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(OMIM) | Deafness, profound, sensorineural | 7 / 7739 | ||||
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(OMIM) | Narrowing of retinal blood vessels | 1 / 7739 | ||||
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(OMIM) | Bone spicules | 1 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(OMIM) | Waxy appearance of optic disc | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Jaworek et al. (2012) reported 2 consanguineous Pakistani families with Usher syndrome. The patients ranged in age from 12 to 45 years. All patients had congenital, bilateral, profound sensorineural hearing loss as well as delayed onset of independent ... |