FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term progressive myoclonus epilepsy 9 ID (Ontology) DOID:0111450 (Human Disease)
Definition A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.
Also Known As "EMP9" ; "PME type 9" ; "progressive myoclonic epilepsy due to LMNB2 deficiency" (for all, see Synonyms field below)
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 progressive myoclonus epilepsy 9       2
 for disease ribbon | progressive myoclonus epilepsy 9       2
 model of | progressive myoclonus epilepsy 9       2
Spanning Tree (Parents/Children)
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variable age at onset electroclinical syndrome
 |__progressive myoclonus epilepsy__
autosomal genetic disease           |
 |__autosomal recessive disease_____|
                                    progressive myoclonus epilepsy 9  2 rec.
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Is a autosomal recessive disease
progressive myoclonus epilepsy
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Synonyms
  • "EMP9" EXACT OMO:0003012
    "PME type 9" EXACT
    "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT
    "progressive myoclonus epilepsy type 9" EXACT
Secondary IDs
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MIM:616540
ORDO:457265