Version: 8.0.0
Date: Tue Jan 28 2025
progressive myoclonus epilepsy 3
DOID:0111446
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

progressive myoclonus epilepsy 3

Definition
A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21.
Synonyms
  • CLN14 disease
  • EPM3
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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