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

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 {1:Schoch et al., 2017}).

Also known as: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, NECFM, severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

7 clinical trials for this condition and its sub-types, 0 tagged with Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination itself.