Developmental and epileptic encephalopathy-115 (DEE115) is an autosomal recessive disorder characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death (Brugger et al., 2024).
For general phenotypic information and a discussion of genetic heterogeneity of DEE, see 308350. [from
OMIM]