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| Term | developmental and epileptic encephalopathy 18 | ID (Ontology) | DOID:0080413 (Human Disease) |
| 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. | ||
| Also Known As | "DEE18" ; "early infantile epileptic encephalopathy 18" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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electroclinical syndrome |__developmental and epileptic encephalopathy__ autosomal genetic disease | |__autosomal recessive disease_________________| developmental and epileptic encephalopathy 18 |
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| Is a |
autosomal recessive disease developmental and epileptic encephalopathy |
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External Crossreferences & Linkouts
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GARD:13676 MIM:615476 |
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