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Metadata
ID DOID:0080443
Name developmental and epileptic encephalopathy 21
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.
https://pubmed.ncbi.nlm.nih.gov/30525121/, https://www.ncbi.nlm.nih.gov/pubmed/24399846
Xrefs

MIM:615833
Synonyms

DEE21 [EXACT]

early infantile epileptic encephalopathy 21 [EXACT]
Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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