TBATA gene related symptoms and diseases

All the information presented here about the TBATA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TBATA gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Long nose Very Common - Between 80% and 100% cases
Sloping forehead Very Common - Between 80% and 100% cases
Aganglionic megacolon Very Common - Between 80% and 100% cases
Long eyelashes Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TBATA gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Low anterior hairline
  • Increased body weight
  • Abnormal autonomic nervous system physiology
  • Adducted thumb
  • Failure to thrive in infancy
  • Intestinal obstruction
  • Flat occiput
  • Malnutrition

And 42 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to TBATA gene

Here you will find a list of rare diseases related to the TBATA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

HIRSCHSPRUNG DISEASE Is also known as hscr, aganglionic megacolon, congenital intestinal aganglionosis, hirschsprung disease, megacolon, aganglionic, mgc


Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

Most common symptoms of HIRSCHSPRUNG DISEASE

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly



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