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What is DHX30

DHX30 is a neurodevelopmental disorder with severe motor impairment and absent language, sometimes also known as NEDMIAL, which is caused by de novo missense mutations in the DHX30 gene.

Common symptoms;

  • global developmental delay

  • intellectual disability

  • minimal or absent speech development

  • muscular hypotonia

  • ataxic gait or inability to walk

  • feeding difficulties

  • autistic features

  • sleep disturbances.

  • strabismus or cross-eyed

  • joint hypermobility.

It is of note that not all features are present in all individuals with DHX30 gene have these features. Many people are misdiagnosed with Cerebral Palsy, Rett’s Syndrome or Angelman’s Syndrome. Thus far, all of the mutations in the DHX30 gene found in humans have arisen spontaneously. In other words, they were not inherited from a parent. The chance of recurrence for future pregnancies of parents is considered low (probably <1%).

Happy Family with Pets

DHX30 Fund at a Glance

We are a group of families whose children share a genetic mutation on the DHX30 gene. Only discovered in 2016, this condition is so new and so rare that it’s current name goes by “DHX30”, with only a handful of individuals around the globe having been diagnosed.  Characterized largely by severe motor skills impairment, neurological issues, and absent language; this condition has commonly been misdiagnosed as Angleman’s, Cerebral Palsy, and Rett’s Syndrome to name a few. Unfortunately, the rarity of this condition means doctors currently have few answers as to what the future holds for our children. From our experience, when we go to doctors, we sit and wait as they google the disorder themselves, and proceed to read back to us the few articles we have all read and studied many times over in our search for answers. Through the power of the internet, many of us have been able to connect, bond, and share in the victories for our children.


31 cases have been discovered

Cute Girl in Classroom

DHX30 Champions

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2019 Symposium

“What you do makes a difference, and you have to decide what kind of difference you want to make”

Jane Goodall

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