TDO2 gene related symptoms and diseases

All the information presented here about the TDO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TDO2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Camptodactyly of finger Very Common - Between 80% and 100% cases
Tryptophanuria Very Common - Between 80% and 100% cases
Hypersexuality Very Common - Between 80% and 100% cases
Stuttering Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TDO2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Mood swings
  • Generalized joint laxity
  • Overweight
  • Limited elbow extension
  • Emotional lability
  • Adducted thumb
  • Interphalangeal joint contracture of finger
  • High myopia

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TDO2 gene

Here you will find a list of rare diseases related to the TDO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial


Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

Most common symptoms of HYPERTRYPTOPHANEMIA

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment



Potential gene panels for TDO2 gene

TDO2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TDO2 gene.

More info about this panel
United States.

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