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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617810
http://purl.bioontology.org/ontology/OMIM/617810
|
|---|---|
| Preferred Name | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 |
| Synonyms |
DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA
GPIBD15
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA
GPIBD15
|
|---|---|
| prefLabel | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
|
| Gene Symbol |
GPAA1
GPIBD15
GAA1
|
| Scope Statement | Seizures are only partially responsive to medication [MISCELLANEOUS]
Onset of seizures in first years of life [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Some patients may be able to attend school with help [MISCELLANEOUS]
Caused by mutation in the glycosylphosphatidylinositol anchor attachment protein 1 gene (GPAA1, 603048.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617810
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4540520
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |