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Milo's medical timeline: Symptoms, tests & surgeries

Below is a quick list of symptoms, keywords and identified mutations for parents and doctors wondering if their child or patient might be dealing with something similar.  These are roughly in the order that we discovered them.  This list excludes many false diagnoses and negative test results that we experienced (e.g. he was misdiagnosed in the NICU with a syndrome he does not have; he has received numerous tests for various metabolic disorders which he does not have; we have lost track of the number of MRIs/CT scans/X-rays he has had etc.).

Individuals with scientific training may wish to refer directly to research on Milo’s case in the American Journal of Medical Genetics and in Genetics in Medicine.

Identified mutations

From microarray:

From exome sequencing (conducted by GeneDx):

Dysmorphisms

(These are technical terms for unusual physical features he has that we or our geneticists find notable, although they are not harmful)