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Metadata
ID DOID:0080413
Name developmental and epileptic encephalopathy 18
Definition A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.
https://www.ncbi.nlm.nih.gov/pubmed/23932106
Xrefs

GARD:13676

OMIM:615476

Synonyms

DEE18 [EXACT]

early infantile epileptic encephalopathy 18 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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