Term Name: developmental and epileptic encephalopathy 37
Synonyms: DEE37, early infantile 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.
Ontology: Human Disease [DOID:0080435]   ( DOID:0080435 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy