Apr 30, 2019
At six weeks of age, the participant was noticed to have a twisted neck (torticollis) and skull abnormality (plagiocephaly). These were treated with physical and helmet therapy. Soon after, she was diagnosed with low muscle tone (hypotonia) and developmental delay.
When the participant was one year old, she received a cord blood infusion. After the infusion, she was more present. By age 2, she was able to clap and babble. At age 3, the participant had two tonic-clonic seizures during fevers. These seizures were effectively managed with medication.
Currently the participant is nonverbal and can stand with assistance, but has difficulties with balance and walking (gait disturbance). She also has a large head size (macrocephaly), repetitive, uncontrolled eye movements (nystagmus), brain abnormalities observed on MRI, delayed bone age (delayed bone maturity), sparse hair, and short stature.
Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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