Visualize Submit Comment
Metadata
ID DOID:0051089
PURL http://purl.obolibrary.org/obo/DOID_0051089 Copy
Name developmental and epileptic encephalopathy 120
Definition A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25.
https://pubmed.ncbi.nlm.nih.gov/41133935/
Xrefs

MIM:621468

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

Subclass Logical Relationships

existence starts during some Infantile onset

has material basis in some autosomal dominant inheritance

Add an item to the term tracker