Klinische FragestellungLaterale-Meningozele-Syndrom, Differentialdiagnose

NGS +

• Alias. Lehman syndrome
• Alias: NOTCH3-Related Lateral Meningocele Syndrome
• Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
• Allelic: Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Allelic: Congenital heart defects, multiple types, 8, with/_out heterotaxy (SMAD2)
• Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
• Atypical Noonan syndrome (RRAS)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
• Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (FKBP14)
• Hajdu-Cheney syndrome (NOTCH2)
• LEOPARD syndrome 3 (BRAF)
• Lateral meningocele syndrome (NOTCH3)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Loeys-Dietz syndrome 3 (SMAD3)
• Loeys-Dietz syndrome 4 (TGFB2)
• Loeys-Dietz syndrome 5 (TGFB3)
• Loeys-Dietz syndrome 6 (SMAD2)
• Marfan syndrome (FBN1)
• Neurofibromatosis type 1 (NF1)
• Noonan syndrome (RASA2)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 11 (MRAS)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like (RRAS)