Nov 09, 2017
At birth, the patient had low muscle tone (hypotonia) and poor head control. She was initially able to breast feed, but stopped at the age of 7 months. At 8 months, an MRI showed abnormal brain findings (cerebellar atrophy). She was admitted to the hospital at the age of 10 months for sleep problems and abnormal breathing (stridor).
Currently the patient has developmental delay and still struggles with head control. She does recognize her mother and has a social smile, but appears to have vision impairment (cortical visual impairment). She also sweats a lot and needs a G tube for feeding. At times, she has low blood glucose levels (hypoglycemia). She recently has had seizures which are being controlled by medication.
Clinicians and researchers have identified the following genetic changes to be causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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