NM_139058.2(ARX):c.428_451dup24 (p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla) | 170302 | ARX | Pathogenic | 387906493 | RCV000011937; RCV000011938; RCV000033212; | Y | MedGen:C0796244,OMIM:300419; MedGen:C0796250,OMIM:309510,ORPHA:94083; MedGen:C3463992,OMIM:308350 | X | 25031661 | 25031684 | NM_139058.2:c.428_451dup24 | NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla | NC_000023.10:g.25031661_25031684dup24 | OMIM Allelic Variant:300382.0002 | C3463992 308350 Epileptic encephalopathy, early infantile, 1; C0796244 300419 Mental retardation, with or without seizures, ARX-related, X-linked; C0796250 309510 Partington X-linked mental retardation syndrome | | |