Term Name:	developmental and epileptic encephalopathy 115
Synonyms:
Definition:	A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21.
Ontology:	Human Disease [DOID:0051087]   ( DOID:0051087 )