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}).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015653
monogenic epilepsy
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
NECFM
related
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
exact