Human genes for multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2 [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.
Synonyms: multiple congenital anomalies-hypotonia-seizures syndrome 2, DOID:0080139, multiple congenital anomalieshypotoniaseizures syndrome 2, developmental and epileptic encephalopathy 20, early infantile epileptic encephalopathy 20 ...