multiple congenital anomalies-hypotonia-seizures syndrome 2 Disease Ontology Browser

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multiple congenital anomalies-hypotonia-seizures syndrome 2 (DOID:0080139)
Alliance: disease page
Synonyms: developmental and epileptic encephalopathy 20; early infantile epileptic encephalopathy 20; glycosylphosphatidylinositol biosynthesis defect 4
Alt IDs: OMIM:300868, ORDO:300496
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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