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progressive myoclonus epilepsy 3
Summary
- Synonym
-
- CLN14 disease
- EPM3
- PME type 3
- Progressive myoclonic epilepsy due to KCTD7 deficiency
- Progressive myoclonus epilepsy type 3
- neuronal ceroid lipofuscinosis 14
- 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.
- Super Class
- autosomal recessive disease progressive myoclonus epilepsy
External Links
- Disease Ontology
- DOID:0111446
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
