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Metadata
ID DOID:0112211
Name developmental and epileptic encephalopathy 75
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in PARS2 on chromosome 1p32.3.
https://pubmed.ncbi.nlm.nih.gov/29915213/
Xrefs

OMIM:618437

Synonyms

DEE75 [EXACT]

early infantile epileptic encephalopathy 75 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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