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GTR Home > Conditions/Phenotypes > Neonatal-onset encephalopathy with rigidity and seizures

Neonatal-onset encephalopathy with rigidity and seizures

Synonyms
Lethal neonatal spasticity-epileptic encephalopathy syndrome; Rigidity and multifocal seizure syndrome, lethal neonatal
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014). [from OMIM]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAAT1, C7orf27, NEDCAS, RMFSL, BRAT1
    Summary: BRCA1 associated ATM activator 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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