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Participant 159

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.


Female, age 8, with intractable seizures, large head size (macrocephaly), global developmental delay, and abnormal posturing due to involuntary muscle contractions (dystonia) caused by a variant in the PPFIA3 gene

Date of Report

Apr 16, 2020


The participant’s mother experienced a complicated full-term birth due to brow presentation (abnormal position during birth). However, the participant did not need to stay in the NICU and went home with her parents. Her parents first became concerned about her development at 6 weeks due to lack of head control and concerns for low muscle tone (hypotonia). At 4 months old, she was enrolled in Early Intervention where she received feeding, occupational, physical, and speech therapies. She has experienced significant global developmental delay; she gained head control at 7 months, began sitting unassisted at 18 months, and walking at 7 years old with a stiff gait.

The participant had abnormal eye movements (exotropia) as an infant, which were corrected with surgery at 1 year old. At 2-3 years old, she experienced episodes of stiffening and choking. These may have been early seizures, and she was diagnosed with epilepsy (recurrent unprovoked seizures) at 5 years old. The participant is currently taking several medications to help reduce the frequency of seizures. She has had additional health concerns, including being previously treated for a clinical diagnosis of gastroesophageal reflux (GERD), for which her symptoms improved with medication (lansoprazole and ranitidine). Additionally, the participant has a history of urinary tract infections (cystitis) and there has been possible concern for extra fluid in the kidneys (hydronephrosis), but her recent kidney ultrasound was normal.

The participant is currently 8 years old. She has a large head size (macrocephaly), low muscle tone (generalized hypotonia), and intellectual disability. She has difficulty swallowing (dysphagia) and she cannot speak. She cannot follow verbal commands, but she is able to respond to simple nonverbal cues and actions like moving to get toys, engaging in mimic play, waving bye, and laughing socially. She is cheerful girl who loves the water and does not like large crowds or loud noises.

Symptoms / Signs
  • Severe global developmental delay
  • Severe intellectual disability
  • Seizures
  • Abnormal posturing due to involuntary muscle contractions (dystonia)
  • Tremor
  • Low muscle tone (generalized hypotonia)
  • Large head size (macrocephaly)
  • Abnormal facial shape
  • Prominent forehead
  • Full lips
  • Wide mouth
  • Difficulty swallowing (dysphagia)
  • Drooling
  • Tooth abnormalities (delayed eruption of permanent teeth and widely spaced teeth)
  • Prominent gums
  • Full nose
  • Area of dark colored skin (hyperpigmented nevi)
  • Broad toe
Current Treatments
  • Atropine drops, Scopolamine Patch – drooling
  • Keppra, Lamictal, Valproic acid (Diastat and Clonazepam as needed) – seizures
  • Vitamin B6 and D3
  • Zyrtec – allergies
Prior Treatments
  • Feeding, occupational, physical, and speech therapies
  • Glycopyrrolate, lansoprazole – gastroesophageal reflux
  • Miralax – constipation
Considered treatments
Previously Considered Diagnoses
  • Metabolic syndrome
  • Microdeletion/microduplication syndrome
  • Peroxisomal disorder
  • Prader-Willi syndrome
  • PTEN-related condition
  • Rett syndrome
  • Sotos syndrome
  • Spinal muscular atrophy
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the participant’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!


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