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Metadata
ID DOID:0080467
Name early infantile epileptic encephalopathy 2
Definition An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.
https://www.ncbi.nlm.nih.gov/pubmed/15492925, https://www.ncbi.nlm.nih.gov/pubmed/22872100
Xrefs

OMIM:300672

Synonyms

X-linked infantile spasm syndrome 2 [EXACT]

Parent Relationships

is_a early infantile epileptic encephalopathy

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