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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301044
http://purl.bioontology.org/ontology/OMIM/301044
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS |
| Synonyms |
DEE85
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS
EIEE85
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DEE85
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS
EIEE85
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
|
| Gene Symbol |
CDLS2
KIAA0178
SMC1A
SMC1
SMC1L1
DEE85
DXS423E
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| Scope Statement | Seizures tend to occur in clusters [MISCELLANEOUS]
Seizures are usually refractory [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the structural maintenance of chromosomes 1A gene (SMC1A, 300040.0007) [MOLECULAR BASIS]
Onset of seizures in the first months or years of life [MISCELLANEOUS]
Only females are affected [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | Xp11.22-p11.21
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 301044
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5393312
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |