Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
From BugSigDB
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
- Aliases
- NECFM
- neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
