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Milo's Journey – KDM1A/LSD1

Milo's Journey - a quest to find other similar cases of and research on de novo ANKRD11 & KDM1A gene mutations with deatures of KBG & Kabuki syndrome to identify causes and seek a cure

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Milo's Journey – KDM1A/LSD1 | milosjourney.com Reviews
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Milo's Journey - a quest to find other similar cases of and research on de novo ANKRD11 & KDM1A gene mutations with deatures of KBG & Kabuki syndrome to identify causes and seek a cure
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1 KDM1A
2 ANKRD11
3 Kabuki syndrome
4 KBG syndrome
5 cleft palate
6 hypotonia
7 cervical stenosis
8 developmental delay
9 global delay
10 early intervention
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Milo's Journey – KDM1A/LSD1 | milosjourney.com Reviews

https://milosjourney.com

Milo's Journey - a quest to find other similar cases of and research on de novo ANKRD11 & KDM1A gene mutations with deatures of KBG & Kabuki syndrome to identify causes and seek a cure

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1

Milo's Journey | Mission | de novo ANKRD11 & KDM1A gene mutations with features of KBG & Kabuki syndrome

http://milosjourney.com/mission.html

Our mission for Milo. We changed our minds after learning about the success of Matthew Might, whose blog. Posts about his son's rare disorder helped connect researchers and other patients around the world, so that what was once a unique case is now one of nine. Not many, but even small numbers make it much easier for science to progress. Parents are different. We don't have a long list of cases to think about, and we worry about our kids every day. We notice things that may not be on the doctors'...To de...

2

Milo's Journey | Photos | de novo ANKRD11 & KDM1A gene mutations with features of KBG & Kabuki syndrome

http://milosjourney.com/photos.html

Photos of Milo at different ages. Milo at one month old. Milo at 7 months old. Milo at 1 year old. Milo at 2 years old. Milo at 2 years old. Milo at 3 years old. Milo at 3 years. Milo at 3 years 9 months old building block tower all by himself. Milo horseback riding at 3 years old. Milo at almost 4 years old with Linda Burkhart, the national expert on the PODD communication system that Milo uses.

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Milo's Journey | de novo ANKRD11 & KDM1A gene mutations with features of KBG & Kabuki syndrome

http://milosjourney.com/index.html

This page is for parents, doctors, or researchers who may know of other people like our son, Milo. If you know of a similar case, please get in touch with us. The more cases we have, the more opportunities we will have to improve our understanding of his condition and facilitate research that can help him and others. What this site is for. 2014 research article: American Journal of Medical Genetics. 2015 research article: Genetics in Medicine. Finding others like our Milo. As well as pictures. Medical pr...

4

Milo's Journey | Medical | de novo ANKRD11 & KDM1A gene mutations with features of KBG & Kabuki syndrome

http://milosjourney.com/medical.html

Milo's medical timeline: Symptoms, tests and surgeries. Below is a quick list of symptoms, keywords and identified mutations. 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. Thick nuchal translucency (4.6 mm) reading at 11 weeks into the pregnancy. CVS results (11 weeks into the pregnancy): normal karyotype. Micro-array also came back negative. One oddity: very thick vernix). Abnormal MRIs...

5

Milo's Journey | About Milo | de novo ANKRD11 & KDM1A gene mutations with features of KBG & Kabuki syndrome

http://milosjourney.com/about.html

A little about Milo. Book He is a sweet, gentle, smart, curious and sociable boy who loves going to school, hanging out with his brothers and playing. What made him this way? We don't know. His genetics team at UCSF suspected that it could be attributed to changes in the ANKRD11 gene and the KDM1A gene, resulting in a condition that is a little bit like KBG Syndrome and a little like Kabuki Syndrome, but not very typical of either. An article in the American Journal of Medical Genetics. Therapies that wi...

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