OntologiesdoidclassesDOID:0080139   
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multiple congenital anomalies-hypotonia-seizures syndrome 2
http://purl.obolibrary.org/obo/DOID_0080139

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.

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