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Metadata
ID DOID:0070393
Name developmental and epileptic encephalopathy 107
Definition A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11.
https://pubmed.ncbi.nlm.nih.gov/28097321/, https://pubmed.ncbi.nlm.nih.gov/33189936/, https://pubmed.ncbi.nlm.nih.gov/26235277/
Xrefs

MIM:620033
Synonyms

DEE107 [EXACT]

early infantile epileptic encephalopathy 107 [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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