Term Name: multiple congenital anomalies-hypotonia-seizures syndrome 4
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 )

Relationships
is a type of: autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome