Term Name: | multiple congenital anomalies-hypotonia-seizures syndrome 4 |
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Synonyms: | DEE77, developmental and epileptic encephalopathy 77, early infantile epileptic encephalopathy 77, glycosylphosphatidylinositol biosynthesis defect 19, GPIBD19, MCAHS4 |
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. |
Ontology: | Human Disease [DOID:0112213] ( DOID:0112213 ) |