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Metadata
ID DOID:0080468
Name developmental and epileptic encephalopathy 1
Definition A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.
https://www.ncbi.nlm.nih.gov/pubmed/11889467, https://pubmed.ncbi.nlm.nih.gov/17668384/
Xrefs

MIM:308350

Synonyms

DEE1 [EXACT]

early infantile epileptic encephalopathy 1 [EXACT]

X-linked infantile spasm syndrome 1 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a X-linked recessive disease

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

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