background participants

Participant 053

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Male, age 8, with TRIP12 associated autism with facial dysmorphology caused by a change in the TRIP12 gene

Date of Report

Feb 15, 2018


The participant had growth delay before and after birth, and was referred to genetics by his primary care provider at the age of 3 due to concerns of developmental delay and autism. Currently he is receiving behavioral therapy. He also has distinctive facial features, including full cheeks, downturned corners of the mouth, narrow forehead, and short distance between the nose and lip (philtrum). He also has significant drooling and constipation.

Symptoms / Signs
  • Short stature
  • Autistic behavior
  • Global developmental delay
  • Intellectual disability
  • Overactive reflexes (hyperreflexia)
  • Narrow forehead
  • Deeply set eye
  • Vision impairment
  • Full cheeks
  • Depressed nasal bridge
  • Short distance between nose and lip (short philtrum)
  • Thick lip (thick vermilion border)
  • U-shaped upper lip (u-shaped upper lip vermilion)
  • Widely spaced teeth
  • Drooling
  • Downturned corners of mouth
  • Small jaw (micrognathia)
  • Abdominal pain
  • Poor appetite
  • Constipation
  • Bowel obstruction (meconium ileus)
  • Scrotum surrounds penis (shawl scrotum)
  • Curved toes (clinodactyly of the 4th and 5thtoe)
  • Broad end of digits and prominent finger pads
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Aarskog syndrome
  • Angelman syndrome
  • Alpha-thalassemia mental retardation syndrome
  • Cystic fibrosis
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Pitt-Hopkins syndrome
  • Rett syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the patient’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant

If this participant sounds like you or someone you know, please contact us!


The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.