Retinitis Pigmentosa-deafness Syndrome
Description
hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked.
Clinical Features
Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa-deafness Syndrome
- Hearing impairment
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
- Cataract
- Cognitive impairment
- Visual impairment
- Motor delay
- Myopia
- Blindness
And another 32 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Retinitis Pigmentosa-deafness Syndrome Is also known as retinitis pigmentosa 8, formerly, rp21, formerly, rp8, formerly, retinitis pigmentosa 21, formerly.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
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