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Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures

Summary

Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS), is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Affected individuals have significant speech delay, and most demonstrate behavioral abnormalities, including autistic features. About half of patients develop seizures, which may be controlled or refractory. More variable features include hypotonia, feeding difficulties, and subtle facial dysmorphism (Schalk et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EIF2C, EIF2C1, GERP95, NEDLBAS, Q99, hAgo1, AGO1
    Summary: argonaute RISC component 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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