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Metadata
ID DOID:0080456
Name developmental and epileptic encephalopathy 46
Definition A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
https://pubmed.ncbi.nlm.nih.gov/30280376/, https://www.ncbi.nlm.nih.gov/pubmed/27616483
Xrefs

MIM:617162
Synonyms

DEE46 [EXACT]

early infantile epileptic encephalopathy 46 [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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