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.