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developmental and epileptic encephalopathy 82
Summary
- Synonym
-
- DEE82
- early infantile epileptic encephalopathy 82
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080715
- Mondo Disease Ontology
- OMIM
