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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/619124
http://purl.bioontology.org/ontology/OMIM/619124
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 |
| Synonyms |
DEE89
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DEE89
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
|
| Gene Symbol |
DEE89
SCP
GAD1
|
| notation | 619124
|
| Scope Statement | Variable skeletal and dysmorphic features may be present [MISCELLANEOUS]
Death in childhood (in some patients) [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the glutamate decarboxylase 1 gene (GAD1, 605363.0001) [MOLECULAR BASIS]
Vigabatrin treatment may control seizures [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 2q31
|
| tui | T047
|
| cui | C5436853
|
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