Optic Atrophy 11; Opa11
OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).
Genes related to Optic Atrophy 11; Opa11
Clinical FeaturesTop most frequent phenotypes and symptoms related to Optic Atrophy 11; Opa11
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
- Abnormal facial shape
- Visual impairment
And another 17 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.
Researches and researchersCurrently, 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.
Optic Atrophy 11; Opa11 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Search Engine
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