multiple congenital anomalies-hypotonia-seizures syndrome 4

Term ID

DOID:0112213

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. (2)

References

• OMIM:618548

Ontology

Human Disease   ( DOID:0112213 )