has material basis in germline mutation in disease has feature NACC1 Autism syndromic intellectual disability monogenic epilepsy neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/neurodevelopmental_disorder_with_epilepsy_cataracts_feeding_difficulties_and_delayed_brain_myelination NECFM OMIM:617393 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}). UMLS:C4479333 Orphanet:500545 GARD:0017930 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0044306 MEDGEN:1377894 Mendelian neurodevelopmental disorder