Visualize Submit Comment
Metadata
ID DOID:0080437
Name developmental and epileptic encephalopathy 31
Definition A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
https://pubmed.ncbi.nlm.nih.gov/25533962/, https://www.ncbi.nlm.nih.gov/pubmed/25262651
Xrefs

OMIM:616346

Synonyms

DEE31 [EXACT]

early infantile epileptic encephalopathy 31 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

Add an item to the term tracker