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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617816
http://purl.bioontology.org/ontology/OMIM/617816
|
|---|---|
| Preferred Name | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 |
| Synonyms |
GPIBD16
MRT62
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GPIBD16
MRT62
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62
|
|---|---|
| prefLabel | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16
|
| Gene Symbol |
GPIBD16
MRT62
GPI2
PIGC
|
| Scope Statement | Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class C protein gene (PIGC, 601730.0001) [MOLECULAR BASIS]
Seizures may be controlled or remit with age [MISCELLANEOUS]
Onset in the first year of life [MISCELLANEOUS]
Three patients from 2 unrelated families have been reported (last curated December 2017) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q23-q25
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617816
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4540521
|
| 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 |