Feb 01, 2018
The patient was born with a heart defect (patent foramen ovale), two ureters connected to the left kidney instead of one (renal duplication), a small head size (microcephaly), low thyroid hormone production (congenital hypothyroidism), a small jaw (micrognathia), an abdominal wall defect (omphalocele), and a narrowing of the anal canal (anal stenosis). At 6 months of age, his parents started having concerns about his development when his motor and speech skills were not progressing as expected.
He has had a gastrostomy tube (G-tube) placed for feeding concerns since he was 10 months old. Recently, he was diagnosed with autism.
Clinicians and researchers have identified the following genetic change to be causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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