Microhydranencephaly

Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both

loss-of-function mutation of the gene NDE1.^[1]^[2]

Notable cases

Jaxon Buell was born on August 27, 2014, with 80% of his brain, and most of his skull, missing. He surpassed all doctors' expectations, who did not expect him to live to his second birthday.^[3] He died at five years old.^[4]

References

^
S2CID 30667255
.

^ "OMIM Entry - # 605013 - MICROHYDRANENCEPHALY; MHAC". omim.org. Retrieved 2015-09-26.
^ Pawlowski, A. "Baby born with part of brain missing turns 2, reaches new milestones". TODAY.com. Retrieved 2017-09-04.
^ Micolucci, Vic (2020-04-07). "Jaxon Buell, Florida 'miracle boy,' passes away at 5". WJXT. Retrieved 2020-04-17.

This article incorporates text from this source, which is in the public domain: "Microhydranencephaly". Genetic and Rare Diseases Information Center. National Institutes of Health. 11 April 2012. Retrieved 26 September 2015.

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[Behunova2010-1] 
S2CID 30667255
.

[2] "OMIM Entry - # 605013 - MICROHYDRANENCEPHALY; MHAC". omim.org. Retrieved 2015-09-26.

[3] Pawlowski, A. "Baby born with part of brain missing turns 2, reaches new milestones". TODAY.com. Retrieved 2017-09-04.

[4] Micolucci, Vic (2020-04-07). "Jaxon Buell, Florida 'miracle boy,' passes away at 5". WJXT. Retrieved 2020-04-17.

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