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A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.
No clinical trials have been registered for DEAF1-associated neurodevelopmental disorder.
5 publications have been identified in PubMed for DEAF1-associated neurodevelopmental disorder. Research spans Basic Science / Preclinical (40%), Other (20%), and Case Report / Case Series (20%).
Katz K (2026). [PMID: 41518091](https://pubmed.ncbi.nlm.nih.gov/41518091/). *Am J Med Genet A*. [Case Report / Case Series]
Lesage S (2025). [PMID: 39995785](https://pubmed.ncbi.nlm.nih.gov/39995785/). *Front Neurol*. [Other]
Suspitsin EN (2025). [PMID: 41255692](https://pubmed.ncbi.nlm.nih.gov/41255692/). *World J Clin Pediatr*. [Epidemiology / Natural History]
Nishijo T (2025). [PMID: 41195579](https://pubmed.ncbi.nlm.nih.gov/41195579/). *J Neurochem*. [Basic Science / Preclinical]
Capps MES (2025). [PMID: 40460132](https://pubmed.ncbi.nlm.nih.gov/40460132/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 17, 2026, 8:01 PM UTC
Common questions about DEAF1-associated neurodevelopmental disorder