background participants

Participant 112

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 4 with global developmental delay, brain abnormalities, seizures, and hearing and vision loss

Date of Report

Mar 30, 2020


The participant was born early at 36 weeks. During the pregnancy, the participant’s mother had preeclampsia and gestational diabetes. After birth, the participant was found to have heart defects (atrial and ventricular septal defects), brain abnormalities (hydrocephalus, agenesis of the corpus callosum, porencephalic cyst and arachnoid cyst), and skull abnormalities (brachycephaly, turricephaly). He was in the Neonatal Intensive Care Unit (NICU) for 43 days after birth. At 3 weeks, a shunt was placed to relieve excess fluid in his brain.

At 6 months, the participant was hospitalized for spasms. He has had seizures ever since. He was also found to have hearing and vision loss. An MRI of the spine showed an abnormal fat deposit on his spinal cord, which was removed surgically.

The participant has severe developmental delay. At 4 months old he smiled and rolled over; however, he is currently non-verbal and does not walk.

Symptoms / Signs
  • Global developmental delay
  • Seizures
  • Small head size (microcephaly)
  • Skull abnormalities (brachycephaly, turricephaly)
  • Brain abnormalities (hydrocephalus, agenesis of the corpus callosum, abnormal hindbrain morphology, porencephalic cyst, arachnoid cyst)
  • Abnormal spinal cord (tethered cord, lipoma)
  • Abnormal facial features (high forehead, abnormal facial shape, hypoplastic philtrum, high palate)
  • Eye abnormalities (long palpebral fissure, hypertelorism, papilledema, heterochromia iridis, abnormal pupillary light reflex, cerebral visual impairment, curly eyelashes)
  • Sensorineural deafness
  • Heart abnormalities (atrial septal defect, ventricular septal defect)
  • Abnormal thumb (adducted thumb, proximal placement of thumb)
  • Inability to straighten finger (flexion contracture of digit)
  • Lower limb asymmetry
  • Excess fluid in kidney (hydronephrosis)
  • Decreased muscle tone (generalized hypotonia)
  • Feeding difficulties
  • Recurrent respiratory infections
Current Treatments
  • Albuterol sulfate – respiratory infections
  • Benadryl, Cetirizine, Loratidine, Nasonex – allergies
  • Budesonide, Pulmicort – asthma
  • Clonazepam, Clobazam, Diastat, Sabril – seizures
  • Clonidine, sodium chloride – high blood pressure
  • Cuvposa, Robinul – drooling
  • Polyethylene glycol – constipation
  • Ranitidine – gastroesophageal reflux disease
  • Zofran – nausea
Prior Treatments
  • Adenoidectomy
  • G-tube –  feeding difficulties
Considered treatments
Previously Considered Diagnoses
  • Ciliopathy
  • Fanconi anemia
  • Microdeletion/duplication disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive
chr16: 68894224; chr16: 69117505
NM024562.1; NM024562.1
c.532G>A; c.3226A>T
p.Val178Ile, p. Met1076Leu
Autosomal dominant
chr3: 15055160

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


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