1. Mendelian
  2. Rare Diseases
  3. BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Bile Acid Synthesis Defect, Congenital, 6; Cbas6

Table of contents:

Genes related to Bile Acid Synthesis Defect, Congenital, 6; Cbas6

  • ACOX2

View recommended genes panels

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.

Click here to know more about Mendelian.

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 more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1 KABUKI SYNDROME 2; KABUK2 BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5 AGNATHIA-OTOCEPHALY COMPLEX; AGOTC IMMUNODEFICIENCY 32A; IMD32A HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2