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Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

Summary

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017). [from OMIM]

Available tests

11 tests are in the database for this condition.

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Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BEND8, BTBD14B, BTBD30, NAC-1, NAC1, NECFM, NACC1
    Summary: nucleus accumbens associated 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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