loading...| Preferred Name |
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE |
|
| Synonyms |
EIM FIME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/605021 |
|
| altLabel |
EIM FIME |
|
| cui |
C0917800 |
|
| Gene Locus |
16p13.3 |
|
| Gene Symbol |
TBC1D24 FIME KIAA1171 DOORS DFNA65 EPRPDC DFNB86 DEE16 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU033452 http://purl.bioontology.org/ontology/OMIM/MTHU068459 http://purl.bioontology.org/ontology/OMIM/MTHU000392 http://purl.bioontology.org/ontology/OMIM/MTHU004608 http://purl.bioontology.org/ontology/OMIM/MTHU068460 http://purl.bioontology.org/ontology/OMIM/MTHU068458 http://purl.bioontology.org/ontology/OMIM/MTHU004607 http://purl.bioontology.org/ontology/OMIM/MTHU036432 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
605021 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE |
|
| Scope Statement |
Good response to medication [MISCELLANEOUS] Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0001) [MOLECULAR BASIS] One family had normal cognitive and neurologic development [MISCELLANEOUS] Variable severity [MISCELLANEOUS] A second family had mild intellectual disability [MISCELLANEOUS] Age of onset 2-8 months [MISCELLANEOUS] Some patients have persistence of seizures to adulthood, but then show remission [MISCELLANEOUS] Two unrelated families have been reported (as of October 2010) [MISCELLANEOUS] |
|
| tui |
T047 |