Aug 24, 2021
At birth, the participant was noticed to have a small head (microcephaly), overlapping fingers, cleft palate, increased muscle tone (hypertonia), rocker bottom feet, abnormal creases on her hands, long and slender fingers, partially dislocated hips (bilateral hip subluxations), and joint contractures. At the age of 3, she had a muscle biopsy that showed a mitochondrial deficiency (mitochondrial complex Il deficiency).
Over time, the participant started having seizures, which are currently being controlled with medication. She also has kidney problems (renal tubular acidosis), acid reflux, hearing impairment in her left ear, and some vision issues (Duane anomaly, cortical visual impairment).
Developmentally, she was delayed in meeting her milestones (global developmental delay). She started speaking around the age of 3 and currently uses 2-3 word phrases.
In 2020, clinicians and researchers identified the following genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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