Search Ontology:
Human Disease
progressive myoclonus epilepsy 3
- Term ID
- DOID:0111446
- Synonyms
-
- CLN14 disease
- EPM3
- 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. (2)
- References
-
- GARD:2167
- MESH:C567095
- MIM:611726
- Ontology
- Human Disease ( DOID:0111446 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models