Visualize Submit Comment

Metadata
ID	DOID:0051087
PURL	http://purl.obolibrary.org/obo/DOID_0051087 Copy Copied!
Name	developmental and epileptic encephalopathy 115
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. https://pubmed.ncbi.nlm.nih.gov/38423010/
Xrefs	MIM:620783
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance