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A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance.
2 publications have been identified in PubMed for NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance. Research spans Review / Meta-Analysis (100%).
Hasan H (2025). [PMID: 41255682](https://pubmed.ncbi.nlm.nih.gov/41255682/). *World J Clin Pediatr*. [Review / Meta-Analysis]
Pavone P (2024). [PMID: 39655047](https://pubmed.ncbi.nlm.nih.gov/39655047/). *Open Med (Wars)*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:48 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance