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progressive myoclonus epilepsy 3 (DOID:0111446)
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Synonyms: CLN14 disease; EPM3; neuronal ceroid lipofuscinosis 14; PME type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; Progressive myoclonus epilepsy type 3
Alt IDs: OMIM:611726, MESH:C567095, ORDO:263516, UMLS_CUI:C2673257
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 KCTD7 on chromosome 7q11.21.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/31/2023
MGI 6.22
The Jackson Laboratory