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Metadata
ID DOID:0080435
Name developmental and epileptic encephalopathy 37
Definition A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31.
https://www.ncbi.nlm.nih.gov/pubmed/27236917
Xrefs

OMIM:616981

Synonyms

DEE37 [EXACT]

early infantile epileptic encephalopathy 37 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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