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Metadata
ID DOID:0112216
Name developmental and epileptic encephalopathy 80
Definition A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in PIGB on chromosome 15q21.3.
https://pubmed.ncbi.nlm.nih.gov/31256876/
Xrefs

OMIM:618580

Synonyms

DEE80 [EXACT]

early infantile epileptic encephalopathy 80 [EXACT]

glycosylphosphatidylinositol biosynthesis defect 20 [EXACT]

GPIBD20 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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