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Human Disease and Mouse Model Detail
Human Disease Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2; MCAHS2
OMIM ID: 300868
Human Phenotype Ontology associations
Synonyms Epileptic Encephalopathy, Early Infantile; Epileptic Encephalopathy, Early Infantile, 20; EIEE20; Glycosylphosphatidylinositol Biosynthesis Defect 4; GPIBD4; Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     PIGA* Piga   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory