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

MIM:618548

Ontology

Human Disease ( DOID:0112213 )

Relationships

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

autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models