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Metadata
ID DOID:0112220
Name developmental and epileptic encephalopathy 86
Definition A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31.
https://pubmed.ncbi.nlm.nih.gov/32427860/
Xrefs

MIM:618910

Synonyms

DEE86 [EXACT]

early infantile epileptic encephalopathy 86 [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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