Latest News
Articles, blog posts, and more.
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
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Your questions, answered
Frequently Asked Questions
DEAF1 Associated Neurodevelopmental Disorders (DAND).
Extremely rare. One of the rarest diseases in the world. There are only dozens of known cases in over 20 years. Of those most mutations are still unique.
One DAND syndrome is hereditary and one is de novo (new to families). The new cases are more common. Symptoms are different for the inherited syndrome. Development can be more typical at first which is why we may not be seeing as many cases yet.
Deformed epidermal autoregulatory factor-1 (DEAF1), a transcription factor essential for central nervous system and early embryonic development.
Yes, our children face many health problems. Most of our children spend many weeks in the hospital every year with serious infections, or seizures that are uncontrollable.
Some of our children have been on life support and several have white brain matter disease which slowly takes over your brain (dementia, but in children).