ErkrankungKontraktur-Syndrom, lethales kongenitales; Differentialdiagnose

NGS +

Gruppe von Erkrankungen

• Alias: Arthrogryposis multiplex congenita, lethal
• Alias: Lethal congenital contracture syndrome
• Allelic: Centronuclear myopathy 1 (DNM2)
• Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
• Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
• Allelic: Congenital arthrogryposis with anterior horn cell disease (GLE1)
• Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
• Allelic: Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
• Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
• Allelic: Myasthenic syndrome, congenital, 10 (DOK7)
• Allelic: Myasthenic syndrome, congenital, 11, assoc. with acetylcholine receptor deficiency (RAPSN)
• Allelic: Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
• Allelic: Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
• Allelic: Myasthenic syndrome, congenital, 2C, assoc. with acetylcholine receptor deficiency (CHRNB1)
• Allelic: Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
• Allelic: Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
• Allelic: Myasthenic syndrome, congenital, 3C, assoc. with acetylcholine receptor deficiency (CHRND)
• Allelic: Myasthenic syndrome, congenital, 9, assoc. with acetylcholine receptor deficiency (MUSK)
• Allelic: Myopathy, congenital, with tremor (MYBPC1)
• Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
• Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
• Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Arthrogryposis, Perthes disease + upward gaze palsy (NEK9)
• Arthrogryposis, distal, type 1B (MYBPC1)
• Escobar syndrome (CHRNG)
• Fetal akinesia deformation sequence 1 (MUSK)
• Fetal akinesia deformation sequence 2 (RAPSN)
• Fetal akinesia deformation sequence 3 (DOK7)
• Lethal congenital contracture syndrome 1 (GLE1)
• Lethal congenital contracture syndrome 10 (NEK9)
• Lethal congenital contracture syndrome 11 (GLDN)
• Lethal congenital contracture syndrome 2 (ERBB3)
• Lethal congenital contracture syndrome 3 (PIP5K1C)
• Lethal congenital contracture syndrome 4 (MYBPC1)
• Lethal congenital contracture syndrome 5 (DNM2)
• Lethal congenital contracture syndrome 6 (ZBTB42)
• Lethal congenital contracture syndrome 7 (CNTNAP1)
• Lethal congenital contracture syndrome 8 (ADCY6)
• Lethal congenital contracture syndrome 9 (ADGRG9)
• Multiple pterygium syndrome, lethal type (CHRNA1, CHRND)
• Multiple pterygium syndrome, lethal type (CHRNG)
• Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
• Restrictive dermopathy, lethal (ZMPSTE24)