DEAF1-associated neurodevelopmental disorder
MONDO:0800443Mondo
Findings
No curated finding names DEAF1-associated neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0800443), read 2026-09-29. CC BY 4.0.