DISEASES

Disease-gene associations mined from literature

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,  early infantile epileptic encephalopathy 20,  glycosylphosphatidylinositol biosynthesis defect 4