Cataract-growth Hormone Deficiency-sensory Neuropathy-sensorineural Hearing Loss-skeletal Dysplasia Syndrome
Genes related to Cataract-growth Hormone Deficiency-sensory Neuropathy-sensorineural Hearing Loss-skeletal Dysplasia Syndrome
- IARS2
Clinical Features
Top most frequent phenotypes and symptoms related to Cataract-growth Hormone Deficiency-sensory Neuropathy-sensorineural Hearing Loss-skeletal Dysplasia Syndrome
- Short stature
- Hearing impairment
- Scoliosis
- Nystagmus
- Sensorineural hearing impairment
- Cataract
- Flexion contracture
- Motor delay
- Depressed nasal bridge
- Peripheral neuropathy
And another 29 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
Cataract-growth Hormone Deficiency-sensory Neuropathy-sensorineural Hearing Loss-skeletal Dysplasia Syndrome Is also known as cagsss.
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.Cataract-growth Hormone Deficiency-sensory Neuropathy-sensorineural Hearing Loss-skeletal Dysplasia Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BCS1L, SCO2, SUCLA2, SUCLG1, SURF1, TSFM, FBXL4, GFM1, GTPBP3, LRPPRC, NDUFAF5, SLC19A3, LIAS, TPK1, NUBPL, NDUFAF4, SERAC1, FARS2, PDHX, COX10 , (...)
View the complete list with 43 more genes
Specificity
2 %
Genes
100 % |
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)
View the complete list with 154 more genes
Specificity
1 %
Genes
100 % |
Neurogenetic Disorders - panels.
By MGZ Medical Genetics Center (Germany).
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)
View the complete list with 572 more genes
Specificity
1 %
Genes
100 % |
IARS2.
By Fulgent Genetics Fulgent Genetics (United States).
IARS2
Specificity
100 %
Genes
100 % |
You can get up to -4 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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