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Metadata
ID DOID:0080428
Name developmental and epileptic encephalopathy 45
Definition A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.
https://pubmed.ncbi.nlm.nih.gov/31618474/, https://www.ncbi.nlm.nih.gov/pubmed/23934111
Xrefs

MIM:617153
Synonyms

DEE45 [EXACT]

early infantile epileptic encephalopathy 45 [EXACT]
Parent Relationships

is_a autosomal dominant disease

is_a developmental and epileptic encephalopathy
Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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