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loading...| Preferred Name |
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 |
| Synonyms |
DEE107 |
| ID |
http://purl.bioontology.org/ontology/OMIM/620033 |
| altLabel |
DEE107 |
| cui |
C5774215 |
| Gene Locus |
20p11.21 |
| Gene Symbol |
SNAPB NAPB DEE107 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU059641 http://purl.bioontology.org/ontology/OMIM/MTHU014770 http://purl.bioontology.org/ontology/OMIM/MTHU045690 http://purl.bioontology.org/ontology/OMIM/MTHU063910 http://purl.bioontology.org/ontology/OMIM/MTHU000242 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
620033 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 |
| Scope Statement |
Onset of seizures in the first months of life [MISCELLANEOUS] Caused by mutation in in the NSF attachment protein beta gene (NAPB, 611270.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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