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Definition

A neurodevelopmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging reveals delayed myelination and cerebral atrophy.

Acronym

NECFM

Keywords

Epilepsy
Mental retardation

 
Disclaimer

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Main funding by: National Institutes of Health