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Metadata
ID DOID:0112219
Name developmental and epileptic encephalopathy 84
Definition A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in UGDH on chromosome 4p14.
https://pubmed.ncbi.nlm.nih.gov/32001716/
Xrefs

OMIM:618792

Synonyms

DEE84 [EXACT]

early infantile epileptic encephalopathy 84 [EXACT]

Jamuar syndrome [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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