Klinische FragestellungKardiomyopathie, pädiatrisch mit zusätzl. Phänotyp; Differentialdiagnose

NGS +

• Allelic: Cataract 16, multiple types (CRYAB)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Creatine phosphokinase, elevated serum (CAV3)
• Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
• Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
• Allelic: Fatty liver, acute, of pregnancy (HADHA)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: HELLP syndrome, maternal, of pregnancy (HADHA)
• Allelic: Keratosis palmoplantaris striata II (DSP)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Long QT syndrome 9 (CAV3)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Allelic: Restrictive dermopathy 2 (LMNA)
• Allelic: Skin fragility-woolly hair syndrome (DSP)
• Arrhythmogenic right ventricular dysplasia 12 (JUP)
• Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Atrial septal defect 5 (ACTC1)
• Barth syndrome (TAFAZZIN)
• Becker muscular dystrophy (DMD)
• CPT II deficiency, infantile (CPT2)
• CPT II deficiency, lethal neonatal (CPT2)
• CPT II deficiency, myopathic, stress-induced (CPT2)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiomyopathy, dilated, 1A (LMNA)
• Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
• Cardiomyopathy, dilated, 1G (TTN)
• Cardiomyopathy, dilated, 1I (DES)
• Cardiomyopathy, dilated, 1II (CRYAB)
• Cardiomyopathy, dilated, 1L (SGCD)
• Cardiomyopathy, dilated, 1R (ACTC1)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, dilated, 3B (DMD)
• Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
• Cardiomyopathy, familial hypertrophic (CAV3)
• Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Cardiomyopathy, hypertrophic 6 (PRKAG2)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiomyopathy, hypertrophic, 11 (ACTC1)
• Cardiomyopathy, hypertrophic, 24 (LDB3)
• Cardiomyopathy, hypertrophic, 25 (TCAP)
• Carnitine deficiency, systemic primary (SLC22A5)
• Congenital myopathy with excess of muscle spindles (HARS)
• Costello syndrome (HARS)
• Danon disease (LAMP2)
• Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
• Duchenne muscular dystrophy (DMD)
• Emery-Dreifuss muscular dystrophy 1, XL (EMD)
• Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Emery-Dreifuss muscular dystrophy 5, AD (SYNE2)
• Friedreich ataxia (FXN)
• Friedreich ataxia with retained reflexes (FXN)
• Glycogen storage disease II (GAA)
• Glycogen storage disease of heart, lethal congenital (PRKAG2)
• Heart-hand syndrome, Slovenian type (LMNA)
• Hutchinson-Gilford progeria (LMNA)
• LCHAD deficiency (HADHA)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 3 (BRAF)
• Laing distal myopathy (MYH7)
• Left ventricular noncompaction 3 (LDB3)
• Left ventricular noncompaction 4 (ACTC1)
• Left ventricular noncompaction 5 (MYH7)
• Legius syndrome (SPRED1)
• Malouf syndrome (LMNA)
• Mitochondrial trifunctional protein deficiency (HADHA)
• Muscular dystrophy, congenital (LMNA)
• Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Muscular dystrophy, limb-girdle, AR 6 (SGCD)
• Muscular dystrophy, limb-girdle, AR 7 (TCAP)
• Myopathy, distal, Tateyama type (CAV3)
• Myopathy, myofibrillar, 1 (DES)
• Myopathy, myofibrillar, 2 (CRYAB)
• Myopathy, myofibrillar, 4 (LDB3)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Myopathy, myosin storage, AD (MYH7)
• Myopathy, myosin storage, AR (MYH7)
• Naxos disease (JUP)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 7 (BRAF)
• Rippling muscle disease 2 (CAV3)
• Salih myopathy (TTN)
• Scapuloperoneal syndrome, myopathic type (MYH7)
• Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Spinocerebellar ataxia, AR 8 (SYNE1)
• Tibial muscular dystrophy, tardive (TTN)
• Wolff-Parkinson-White syndrome (PRKAG2)