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Metadata
ID DOID:0080453
Name developmental and epileptic encephalopathy 25
Definition A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.
https://pubmed.ncbi.nlm.nih.gov/27600704/, https://www.ncbi.nlm.nih.gov/pubmed/24995870
Xrefs

GARD:12901

OMIM:615905

Synonyms

DEE25 [EXACT]

developmental and epileptic encephalopathy 25, with amelogenesis imperfecta [EXACT]

early infantile epileptic encephalopathy 25 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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