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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618548
http://purl.bioontology.org/ontology/OMIM/618548
|
|---|---|
| Preferred Name | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 |
| Synonyms |
DEE77
MCAHS4
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77
EIEE77
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 77
GPIBD19
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEE77
MCAHS4
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77
EIEE77
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 77
GPIBD19
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|
|---|---|
| prefLabel | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
|
| Gene Symbol |
MCAHS4
PIGQ
DEE77
GPIBD19
|
| Scope Statement | Three unrelated patients have been reported (last curated August 2019) [MISCELLANEOUS]
Early death may occur [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class Q protein (PIGQ, 605754.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16p13.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618548
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231405
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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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| No notes to display |