multiple congenital anomalies-hypotonia-seizures syndrome 2
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
class Information
has_alternative_id
obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2
has_obo_namespace
disease_ontology
in_subset