multiple congenital anomalies-hypotonia-seizures syndrome 2

Summary

DOID:0080139 - multiple congenital anomalies-hypotonia-seizures syndrome 2

Disease Ontology Definition:A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.

Synonyms: developmental and epileptic encephalopathy 20, early infantile epileptic encephalopathy 20, glycosylphosphatidylinositol biosynthesis defect 4,

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

: piga

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

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

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

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