Version: 8.0.0
Date: Tue Jan 28 2025
developmental and epileptic encephalopathy 64
DOID:0070375
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and epileptic encephalopathy 64

Definition
A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21.
Synonyms
  • DEE64
  • early infantile epileptic encephalopathy 64
Cross References
Parent Terms
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