background participants

Participant 008

developmental delay
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Male, age 18, with global developmental delay, autism, severe nearsightedness (myopia), different facial features, heart defects (atrial septal defect, ventricular septal defect) and a cleft palate caused by a change in the KMT2C gene

Date of Report

Aug 25, 2021


The patient was born with heart defects (atrial septal defect, ventricular septal defect) and a cleft palate. Shortly after birth, he was noticed to have different facial features, including a triangular face, eye folds (epicanthal folds), decreased creases on his hands and feet, and three bones in his thumbs instead of two (triphalangeal thumbs). The heart defects did not require surgery, but he needed to undergo a cleft palate repair (palatoplasty) in 2012.

Over time, the patient has developed severe nearsightedness (myopia) and acid reflux disease (gastroesophageal reflux), and is cross-eyed (strabismus).

Developmentally, he has been diagnosed with autism and global developmental delay. He participates in occupational, physical, and speech therapy regularly and has a one-on-one aid in the classroom.

Symptoms / Signs
  • Global developmental delay
  • Attention deficit hyperactivity disorder (ADHD)
  • Autism
  • High pain tolerance
  • Heart defects (atrial septal defect, ventricular septal defect)
  • Heart murmur
  • Acid reflux disease (gastroesophageal reflux)
  • Decreased creases on palms (palmar creases)
  • Tapered fingers
  • Three bones in thumbs instead of two (triphalangeal thumbs)
  • Triangular face
  • Ear infections (recurrent otitis media)
  • Nearsighted (myopia)
  • Cross-eyed (strabismus)
  • Eye folds (epicanthus)
  • Slight unibrow (synophrys)
  • Corners of eye widely separated (telecanthus)
  • Wide nasal bridge
  • Nasal regurgitation
  • Smooth groove in middle area of upper lip (smooth philtrum)
  • Thin upper lip
  • Cleft palate (submucous cleft hard palate)
  • Nasal speech
  • Long toes
  • Seasonal allergies
Current Treatments
  • Occupational, physical, speech therapy
  • Glasses- strabismus and myopia
Prior Treatments
  • Palatoplasty- cleft palate
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
  • Velocardiofacial/DiGeorge/22q11.2 deletion syndrome
Other Photographs
Genetic Variants of Interest

In 2021, clinicians and researchers identified the following de novo genetic change to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
see gene page
see gene page
see gene page
see gene page
see gene page

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


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