Version: 8.0.0
Date: Tue Jan 28 2025
developmental and epileptic encephalopathy 35
DOID:0080458
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and epileptic encephalopathy 35

Definition
A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.
Synonyms
  • DEE35
  • early infantile epileptic encephalopathy 35
Cross References
Parent Terms
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None
Sources of Associations

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