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Disease Ontology Browser
multiple congenital anomalies-hypotonia-seizures syndrome 4 (DOID:0112213)
Alliance: disease page
Synonyms: DEE77; developmental and epileptic encephalopathy 77; early infantile epileptic encephalopathy 77; glycosylphosphatidylinositol biosynthesis defect 19; GPIBD19; MCAHS4
Alt IDs: OMIM:618548
Definition: A multiple congenital anomalies-hypotonia-seizures syndrome 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 the PIGQ gene 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
02/13/2024
MGI 6.23
The Jackson Laboratory