multiple congenital anomalies-hypotonia-seizures syndrome 4

Summary

DOID:0112213 - multiple congenital anomalies-hypotonia-seizures syndrome 4

Disease Ontology 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.

Synonyms: DEE77, GPIBD19, MCAHS4, developmental and epileptic encephalopathy 77, early infantile epileptic encephalopathy 77, glycosylphosphatidylinositol biosynthesis defect 19,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), multiple congenital anomalies-hypotonia-seizures syndrome (is_a)