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Jeffries-Lakhani neurodevelopmental syndrome

Summary

Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is an autosomal recessive disorder characterized by hypotonia, early-onset seizures, and global developmental delay apparent from infancy. Affected individuals have motor delay, speech delay, and impaired intellectual development, and about half of patients are nonambulatory and/or nonverbal. Some patients have cardiac arrhythmia, but congenital cardiac septal defects are only rarely observed. Additional features may include feeding difficulties, recurrent infections, ocular defects, and nonspecific dysmorphic features. Premature death due to cardiac arrhythmia or epilepsy may occur (Jeffries et al., 2024). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AVSD2, CIRRIN, JELANS, CRELD1
    Summary: cysteine rich with EGF like domains 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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