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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300088
http://purl.bioontology.org/ontology/OMIM/300088
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|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 |
| Synonyms |
DEE9
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9
JUBERG-HELLMAN SYNDROME
EFMR
EIEE9
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEE9
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9
JUBERG-HELLMAN SYNDROME
EFMR
EIEE9
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION
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|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9
|
| Gene Symbol |
PCDH19
KIAA1313
EFMR
DEE9
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| Scope Statement | Carrier males are unaffected except for psychiatric/behavioral abnormalities [MISCELLANEOUS]
Caused by mutation in the protocadherin 19 gene (PCDH19, 300460.0001). [MOLECULAR BASIS]
Some patients have cessation of seizures at a mean of 12 years [MISCELLANEOUS]
Seizure onset at a mean of 14 months (range 6 to 36 months) [MISCELLANEOUS]
Intellectual disability is variable [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq22
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 300088
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1848137
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| Moved from | 121250
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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