Bile Acid Synthesis Defect, Congenital, 6; Cbas6
Table of contents:
Genes related to Bile Acid Synthesis Defect, Congenital, 6; Cbas6
- ACOX2
Clinical Features
Top most frequent phenotypes and symptoms related to Bile Acid Synthesis Defect, Congenital, 6; Cbas6
- Intellectual disability
- Global developmental delay
- Ataxia
- Delayed speech and language development
- Hepatomegaly
- Intellectual disability, mild
- Gait ataxia
- Elevated hepatic transaminase
- Abnormality of the nervous system
- Malabsorption
And another 10 symptoms. If you need more information about this disease we can help you.
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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 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.Bile Acid Synthesis Defect, Congenital, 6; Cbas6 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 ACOX2.
By Fulgent Genetics Fulgent Genetics (United States).
ACOX2
Specificity
100 %
Genes
100 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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