Ned is now diagnosed!
Ned is now diagnosed!
Date of Report


Ned is diagnosed with TRIO-related condition (OMIM #617061)

Gender and year of birth

Male, 2008

Ned is now diagnosed!

Ned received a diagnosis of TRIO-related condition (OMIM  #617061) in 2022 through the Western Australian Undiagnosed Disease Program. This was due to a de novo (new, not inherited) missense change in the TRIO gene. If you are interested in reading more about this rare condition there is information for health professionals here and for families here


Hirschsprung disease, microcephaly, intellectual disability, speech delay, behavioral issues, sensory and self regulation issues,  low tone, poor bladder and bowel control, slow growth.

Symptoms / Signs

  • At birth, no bowel movement, requiring surgery for Hirschsprung disease.
  • At 3-6 months, noted development delays (no babbling), poor feeding, allergies (wheat, egg, peanuts, brazil nut and minor reactions to red meat and rice).
  • At 9 months - 2 years, growth in weight and head size stopped, and significant developmental delays confirmed (motor and language).
  • From age 2 years onward (and still ongoing), behavioural issues (self regulation, aggressivity), vitamin D deficiency

Current Treatments

  • Speech therapy
    Self regulation techniques

Prior Treatments

  • Therapies: speech and occupational therapy, psychologist (for behavior), podiatry
    Treatment/evaluations : Surgery, MRI, EEG,  medications (Dexamphetamine, Vyvanse, Risperidone)

Considered treatments

  • Medication, Therapy, Testing

Previously Considered Diagnoses

  • TESTED: Angelman syndrome, Fragile X  syndrome, Williams Syndrome, Smith-Lemli-Opitz syndrome   Suggested : Cerebal dysgenesis ( unconfirmed/untestable, mother's suggestion?) 

Genetic Variants of Interest

  • Trio exome: - heterozygous variant  in TRIO gene Chr5 (GRCH37):g.14394207C>A (glutamine at codon 1427 is replaced by lysine)

Siblings, age & gender

Full brother, 13 years old, born with gastroschisis. Maternal half sister,  6 years old


If this participant sounds like you or someone you know, please contact Wilhelm Foundation at


Hi my name is Ned I am 11 years old and very energetic. I love riding my bike and playing sports.
I love helping my family do jobs outside.
I can be cheeky and sometimes naughty, but I’m very loving and affectionate.

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