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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618143
http://purl.bioontology.org/ontology/OMIM/618143
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95 |
| Synonyms |
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
GPIBD18
DEE95
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
GPIBD18
DEE95
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95
|
| Gene Symbol |
GPIBD18
DEE95
PIGS
|
| Scope Statement | Family A had 2 affected fetuses [MISCELLANEOUS]
Three unrelated families have been reported (last curated October 2018) [MISCELLANEOUS]
Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class S protein gene (PIGS, 610271.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Onset in utero or early infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618143
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748357
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |