ErkrankungMikrozephalie mit Muskelschwäche, Differentialdiagnose

NGS +

Kongenitale Muskeldystrophie aufgrund von Dystroglykanopathie mit früh einsetzender Muskeldystrophie, schwere Muskelhypotonie, schwere mentale Retardierung, typische Hirn- + Augenfehlbildungen, Pachygyrien, Polymikrogyrien, Agyrien, Hirnstamm, zerebellare Strukturanomalien, schwere Myopie, Glaukom, Sehnerv, Netzhauthypoplasie; Krampfanfälle, Mikro- (oder Makro) zephalie, Mikrophthalmie, angeborene Kontrakturen. Weniger schwere Fälle kommen vor- je nach Schweregrad eingeschränkte motorische Funktion

• Alias: Fukuyama congenital muscular dystrophy (FKTN)
• Alias: Infantile Refsum disease
• Alias: Muscle-eye-brain disease
• Alias: Muscle-eye-brain syndrome
• Alias: Muscular dystrophy-dystroglycanopathy, congenital with brain, eye anomalies
• Alias: Neonatal adrenoleukodystrophy
• Alias: Peroxisomal biogenesis disturbances
• Alias: Peroxisome biogenesis disorder spectrum
• Alias: Santavuori congenital muscular dystrophy (POMGNT1)
• Alias: Walker-Warburg syndrome (POMT1)
• Alias: Zellweger spectrum disorder
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (POMT)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 2 (POMT2)
• Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 6 (LARGE1)
• Allelic: Muscular dystrophy-dystroglycanopathy, congen. with/-out mental retard., type B, 5 (FKRP)
• Allelic: Muscular dystrophy-dystroglycanopathy, congen. without mental retard., type B, 4 (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 12 (POMK)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 2 (POMT2)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 5 (FKRP)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7 (CRPPA)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 8 (POMGNT2)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Allelic: Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
• Heimler syndrome 1 [Peroxisome biogenesis disorder 1C] (PEX1)
• Heimler syndrome 2 [Peroxisome biogenesis disorder 4C] (PEX6)
• Muscular dystrophy-dystroglycanopathy (congenital with brain + eye anomalies), type A, 1 (POMT)
• Muscular dystrophy-dystroglycanopathy (congenital with brain + eye anomalies), type A, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (POMT)
• Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 10 (TMEM5)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 11 (B3GALNT2)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 12 (POMK)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 13 (B4GAT1)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 7 (CRPPA)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 8 (POMGNT2)
• Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
• Peroxisome biogenesis disorder 10B (PEX3)
• Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
• Peroxisome biogenesis disorder 11B (PEX13)
• Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
• Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
• Peroxisome biogenesis disorder 14B (PEX11B)
• Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
• Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
• Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
• Peroxisome biogenesis disorder 2B (PEX5)
• Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
• Peroxisome biogenesis disorder 3B (PEX12)
• Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
• Peroxisome biogenesis disorder 4B (PEX6)
• Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
• Peroxisome biogenesis disorder 5B (PEX2)
• Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
• Peroxisome biogenesis disorder 6B (PEX10)
• Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
• Peroxisome biogenesis disorder 7B (PEX26)
• Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
• Peroxisome biogenesis disorder 8B (PEX16)
• Peroxisome biogenesis disorder 9B (PEX7)