Klinische FragestellungGlycosylphosphatidylinositol-Biosynthese-Defekte, Differentialdiagnose

GP7685_DH

• Alias: Hyperkoagulabilitätssyndrom durch Glykosylphosphatidyl-Inositol-Mangel (PIGM, PIGW)
• CHIME syndrome (PIGL)
• Developmental + epileptic encephalopathy 38 (ARV1)
• Developmental + epileptic encephalopathy 55 (PIGP)
• Developmental + epileptic encephalopathy 80 (PIGB)
• Developmental + epileptic encephalopathy 95 (PIGS)
• Developmental and epileptic encephalopathy 77 (PIGQ)
• Glycosylphosphatidylinositol biosynthesis defect 11 (PIGW)
• Glycosylphosphatidylinositol biosynthesis defect 15 (GPAA1)
• Glycosylphosphatidylinositol biosynthesis defect 16 (PIGC)
• Glycosylphosphatidylinositol biosynthesis defect 17 (PIGH)
• Glycosylphosphatidylinositol deficiency (PIGM)
• Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
• Hyperphosphatasia with mental retardation syndrome 2 (PIGO)
• Hyperphosphatasia with mental retardation syndrome 3 (PGAP2)
• Hyperphosphatasia with mental retardation syndrome 4 (PGAP3)
• Hyperphosphatasia with mental retardation syndrome 5 (PIGW)
• Hyperphosphatasia with mental retardation syndrome 6 (PIGY)
• Mental retardation, AR 53 (PIGG)
• Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
• Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
• Multiple congenital anomalies-hypotonia-seizures syndrome 3 (PIGT)
• Neurodevelopmental disorder with brain anomalies, seizures + scoliosis (PIGU)
• Neurodevelopmental disorder with dysmorphic features, spasticity + brain abnormalities (PGAP1)
• Neurodevelopmental disorder with hypotonia + cerebellar atrophy, with/-out seizures (PIGK)
• Onychodystrophy, osteodystrophy, impaired intellectual development, seizures syndrome (PIGF)
• Paroxysmal nocturnal hemoglobinuria 2 (PIGT)
• Paroxysmal nocturnal hemoglobinuria, somatic (PIGA)