FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term progressive myoclonus epilepsy 3 ID (Ontology) DOID:0111446 (Human Disease)
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.
Also Known As "CLN14 disease" ; "EPM3" ; "neuronal ceroid lipofuscinosis 14" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
variable age at onset electroclinical syndrome
 |__progressive myoclonus epilepsy__
autosomal genetic disease           |
 |__autosomal recessive disease_____|
                                    progressive myoclonus epilepsy 3
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
progressive myoclonus epilepsy
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "CLN14 disease" EXACT
    "EPM3" EXACT OMO:0003012
    "neuronal ceroid lipofuscinosis 14" EXACT
    "PME type 3" EXACT
    "Progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT
    "Progressive myoclonus epilepsy type 3" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:2167
MESH:C567095
MIM:611726
ORDO:263516
SNOMEDCT_US_2023_03_01:783064000
UMLS_CUI:C2673257