OBO ID: DOID:0080458 |
Term Name: | developmental and epileptic encephalopathy 35 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. https://www.ncbi.nlm.nih.gov/pubmed/26224535 | ||
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Ontology: | Human Disease ( DOID:0080458 ) |
OTHER developmental and epileptic encephalopathy 35 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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