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Metadata
ID DOID:0112208
Name developmental and epileptic encephalopathy 72
Definition A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in NEUROD2 on chromosome 17q12.
https://pubmed.ncbi.nlm.nih.gov/30323019/
Xrefs

OMIM:618374

Synonyms

DEE72 [EXACT]

early infantile epileptic encephalopathy 72 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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