Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617599
http://purl.bioontology.org/ontology/OMIM/617599
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 |
| Synonyms |
GPIBD14
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14
EIEE55
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
DEE55
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GPIBD14
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14
EIEE55
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
DEE55
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55
|
| Gene Symbol |
DEE55
DSCR5
PIGP
|
| Scope Statement | Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class P protein (PIGP, 605938.0001) [MOLECULAR BASIS]
Three unrelated families have been reported (last curated March 2020) [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 21q22.1-q22.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617599
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4539843
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |