loading...| Preferred Name |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT |
|
| Synonyms |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/245570 |
|
| altLabel |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION CSWSS ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT ADRESD RESDAD CSWS LANDAU-KLEFFNER SYNDROME LKS CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME FESD APHASIA, ACQUIRED, WITH EPILEPSY |
|
| cui |
C5552731 C1832814 C0282512 |
|
| Gene Locus |
16p13 |
|
| Gene Symbol |
NMDAR2A FESD LKS GRIN2A |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012529 http://purl.bioontology.org/ontology/OMIM/MTHU042012 http://purl.bioontology.org/ontology/OMIM/MTHU067695 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU000365 http://purl.bioontology.org/ontology/OMIM/MTHU042016 http://purl.bioontology.org/ontology/OMIM/MTHU042011 http://purl.bioontology.org/ontology/OMIM/MTHU042013 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU021250 http://purl.bioontology.org/ontology/OMIM/MTHU036833 http://purl.bioontology.org/ontology/OMIM/MTHU003850 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
613971 601085 |
|
| notation |
245570 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT |
|
| Scope Statement |
Highly variable severity [MISCELLANEOUS] Seizures may remit in adolescence [MISCELLANEOUS] Onset of seizures in infancy or early childhood [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Caused by mutation in the ionotropic N-methyl-D-aspartate glutamate receptor subunit 2A gene (GRIN2A, 138253.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |