Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/300868
http://purl.bioontology.org/ontology/OMIM/300868
Preferred Name

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Synonyms
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4
GPIBD4
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20
DEE20
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 20
MCAHS2
EIEE20
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4
GPIBD4
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20
DEE20
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 20
MCAHS2
EIEE20
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prefLabel
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Gene Symbol
PIGA
MCAHS2
NEDEPH
PNH1
Scope Statement
Caused by mutation in the phosphatidylinositol glycan, class A gene (PIGA, 311770.0011) [MOLECULAR BASIS]
May be lethal in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Variable extraneurologic features [MISCELLANEOUS]
Onset in utero or early infancy [MISCELLANEOUS]
Evidence of systemic iron overload seen in 1 family [MISCELLANEOUS]
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type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU032874
http://purl.bioontology.org/ontology/OMIM/MTHU068041
http://purl.bioontology.org/ontology/OMIM/MTHU032853
http://purl.bioontology.org/ontology/OMIM/MTHU004041
http://purl.bioontology.org/ontology/OMIM/MTHU033558
http://purl.bioontology.org/ontology/OMIM/MTHU006120
http://purl.bioontology.org/ontology/OMIM/MTHU010666
http://purl.bioontology.org/ontology/OMIM/MTHU007511
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU009238
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU042057
http://purl.bioontology.org/ontology/OMIM/MTHU004590
http://purl.bioontology.org/ontology/OMIM/MTHU032878
http://purl.bioontology.org/ontology/OMIM/MTHU013901
http://purl.bioontology.org/ontology/OMIM/MTHU032884
http://purl.bioontology.org/ontology/OMIM/MTHU036695
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU004211
http://purl.bioontology.org/ontology/OMIM/MTHU003853
http://purl.bioontology.org/ontology/OMIM/MTHU037241
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU025399
http://purl.bioontology.org/ontology/OMIM/MTHU011118
http://purl.bioontology.org/ontology/OMIM/MTHU049259
http://purl.bioontology.org/ontology/OMIM/MTHU002980
http://purl.bioontology.org/ontology/OMIM/MTHU004589
http://purl.bioontology.org/ontology/OMIM/MTHU009517
http://purl.bioontology.org/ontology/OMIM/MTHU045754
http://purl.bioontology.org/ontology/OMIM/MTHU000702
http://purl.bioontology.org/ontology/OMIM/MTHU004828
http://purl.bioontology.org/ontology/OMIM/MTHU002761
http://purl.bioontology.org/ontology/OMIM/MTHU032876
http://purl.bioontology.org/ontology/OMIM/MTHU061611
http://purl.bioontology.org/ontology/OMIM/MTHU002016
http://purl.bioontology.org/ontology/OMIM/MTHU008306
http://purl.bioontology.org/ontology/OMIM/MTHU007202
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU009601
http://purl.bioontology.org/ontology/OMIM/MTHU025398
http://purl.bioontology.org/ontology/OMIM/MTHU002823
http://purl.bioontology.org/ontology/OMIM/MTHU045762
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU028611
http://purl.bioontology.org/ontology/OMIM/MTHU068042
http://purl.bioontology.org/ontology/OMIM/MTHU008360
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU022860
http://purl.bioontology.org/ontology/OMIM/MTHU045752
http://purl.bioontology.org/ontology/OMIM/MTHU045755
http://purl.bioontology.org/ontology/OMIM/MTHU005373
http://purl.bioontology.org/ontology/OMIM/MTHU032875
http://purl.bioontology.org/ontology/OMIM/MTHU045763
http://purl.bioontology.org/ontology/OMIM/MTHU003747
http://purl.bioontology.org/ontology/OMIM/MTHU032883
http://purl.bioontology.org/ontology/OMIM/MTHU000264
http://purl.bioontology.org/ontology/OMIM/MTHU004047
http://purl.bioontology.org/ontology/OMIM/MTHU002081
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU032877
http://purl.bioontology.org/ontology/OMIM/MTHU032873
http://purl.bioontology.org/ontology/OMIM/MTHU000260
http://purl.bioontology.org/ontology/OMIM/MTHU004222
http://purl.bioontology.org/ontology/OMIM/MTHU011792
http://purl.bioontology.org/ontology/OMIM/MTHU005738
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tui
T047
Gene Locus
Xp22.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
300868
Semantic type UMLS property
Has inheritance type
cui
C3275508
OMIM Entry Type
3
OMIM MimType Value
pound
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