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Disease Ontology Browser
developmental and epileptic encephalopathy 77 (DOID:0112213)
Alliance: disease page
Synonyms: 'DEE77'; 'early infantile epileptic encephalopathy 77'; 'glycosylphosphatidylinositol biosynthesis defect 19'; 'GPIBD19'; 'MCAHS4'; 'multiple congenital anomalies-hypotonia-seizures syndrome-4'
Alt IDs: OMIM:618548
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in PIGQ on chromosome 16p13.3.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory