May 31, 2017
As an infant, the patient had low muscle tone (hypotonia) and was not meeting developmental milestones. She started wearing hearing aids at the age of 17 months due to hearing loss (sensorineural) and was diagnosed with cataracts at 2 years old. She had one seizure at 6 years old, but no seizures have occurred since then. She has slurred speech (dysarthria) and intellectual disability.
The patient also has short stature and small, discolored, and easily damaged teeth (amelogensis imperfecta). She has loose ligaments (ligamentous laxity) and absent reflexes (areflexia). She also has a heart murmur, mitral valve prolapse, and low platelets in her blood (thrombocytopenia).
If this participant sounds like you or someone you know, please contact us
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