RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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OMIM Id:
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268010
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0003241)
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External genital hypoplasia |
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25 / 7739
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2
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(HPO:0008035)
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Retinitis pigmentosa inversa |
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3 / 7739
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3
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(HPO:0000510)
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Rod-cone dystrophy |
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266 / 7739
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4
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(HPO:0008527)
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Congenital sensorineural hearing impairment |
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165 / 7739
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5
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(HPO:0008625)
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Severe sensorineural hearing impairment |
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150 / 7739
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6
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(HPO:0000407)
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Sensorineural hearing impairment |
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524 / 7739
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7
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(HPO:0001000)
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Abnormality of skin pigmentation |
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105 / 7739
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8
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(OMIM)
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Predominant pigmentation around the disc and macula |
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1 / 7739
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9
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(OMIM)
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No night blindness |
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2 / 7739
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10
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(OMIM)
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Early central vision loss |
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1 / 7739
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11
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(OMIM)
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Dim illumination preference |
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1 / 7739
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12
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |