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Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for isolated lissencephaly type 1 without known genetic defects.
2 publications have been identified in PubMed for isolated lissencephaly type 1 without known genetic defects. Research spans Review / Meta-Analysis (100%).
Ji X (2025). [PMID: 40390087](https://pubmed.ncbi.nlm.nih.gov/40390087/). *BMC Med Genomics*. [Review / Meta-Analysis]
Russ JB (2025). [PMID: 40048696](https://pubmed.ncbi.nlm.nih.gov/40048696/). *Brain*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center