| Metadata | |
|---|---|
| ID | DOID:0111446 |
| Name | progressive myoclonus epilepsy 3 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/17455289, https://www.ncbi.nlm.nih.gov/pubmed/22748208 |
| Xrefs |
SNOMEDCT_US_2023_03_01:783064000 |
| Subsets |
DO_rare_slim |
| Synonyms |
CLN14 disease [EXACT] EPM3 [EXACT] neuronal ceroid lipofuscinosis 14 [EXACT] PME type 3 [EXACT] Progressive myoclonic epilepsy due to KCTD7 deficiency [EXACT] Progressive myoclonus epilepsy type 3 [EXACT] |
| Parent Relationships |