Klinische FragestellungHörverlust, nicht-syndromal; Differentialdiagnose

NGS +

• Alias: Deafness, AD
• Alias: Hearing loss, deafness
• Alias: Schwerhörigkeit, Hörstörungen, Taubheit
• Allelic: Achondroplasia (FGFR3)
• Allelic: Anemia, sideroblastic, 4 (HSPA9)
• Allelic: Anterior segment anomalies with/-out cataract (EYA1)
• Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Allelic: Aplasia of lacrimal + salivary glands (FGF10)
• Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
• Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Allelic: Behr syndrome (OPA1)
• Allelic: Bent bone dysplasia syndrome (FGFR2)
• Allelic: Cardiomyopathy, dilated, 1J (EYA4)
• Allelic: Cataract 41 (WFS1)
• Allelic: Charcot-Marie-Tooth disease, AR intermediate, B (KARS1)
• Allelic: Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
• Allelic: Charcot-Marie-Tooth disease, dominant intermediate C (YARS)
• Allelic: Charcot-Marie-Tooth disease, type 1A (PMP22)
• Allelic: Combined oxidative phosphorylation deficiency 13 (PNPT1)
• Allelic: Corneal dystrophy, Fuchs endothelial, 4 (SLC4A11)
• Allelic: Corneal endothelial dystrophy, AR (SLC4A11)
• Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Allelic: Craniosynostosis nonspecific (FGFR2)
• Allelic: Crouzon syndrome (FGFR2)
• Allelic: Crouzon syndrome [craniofacial dysostosis] with acanthosis nigricans (FGFR3)
• Allelic: Delpire-McNeill syndrome (SLC12A2)
• Allelic: Dentin dysplasia, type II (DSPP)
• Allelic: Dentinogenesis imperfecta, Shields type II (DSPP)
• Allelic: Dentinogenesis imperfecta, Shields type II + III (DSPP)
• Allelic: Dentinogenesis imperfecta, Shields type III (DSPP)
• Allelic: Developmental + epileptic encephalopathy 16 (TBC1D24)
• Allelic: Developmental + epileptic encephalopathy 81 ((DMXL2)
• Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
• Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
• Allelic: Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Allelic: Epiphyseal dysplasia, multiple, 2 (COL9A2)
• Allelic: Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
• Allelic: Epiphyseal dysplasia, multiple, 6 (COL9A1)
• Allelic: Erythrokeratodermia variabilis et progressiva 1 (GJB3)
• Allelic: Febrile seizures, familial, 4 (ADGRV1)
• Allelic: Fibrochondrogenesis 1 (COL11A1)
• Allelic: Fibrochondrogenesis 2 (COL11A2)
• Allelic: GRACILE syndrome (BCS1L)
• Allelic: Gastric cancer, somatic (FGFR2)
• Allelic: Gastrointestinal stromal tumor, familial (KIT)
• Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
• Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
• Allelic: Gout, PRPS-related (PRPS1)
• Allelic: Hirschsprung disease, susceptibility to, 2 (EDNRB)
• Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
• Allelic: Hydrops, lactic acidosis + sideroblastic anemia (LARS2)
• Allelic: Hyperpigmentation with/-out hypopigmentation (KITLG)
• Allelic: Hypochondroplasia (FGFR3)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
• Allelic: Jackson-Weiss syndrome (FGFR2)
• Allelic: Kniest dysplasia (COL2A1)
• Allelic: Leber congenital amaurosis 17 (GDF6)
• Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Allelic: Long QT syndrome 1 (KCNQ1)
• Allelic: Long QT syndrome 5 (KCNE1)
• Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
• Allelic: Mastocytosis, cutaneous (KIT)
• Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
• Allelic: Meningioma (MN1)
• Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
• Allelic: Microphthalmia, isolated 4 (GDF6)
• Allelic: Migraine, resistance to (EDNRA)
• Allelic: Mitochondrial DNA depletion syndrome 14, encephalocardiomyopathic type (OPA1)
• Allelic: Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Multiple synostoses syndrome 4 (GDF6)
• Allelic: Myoclonic epilepsy, infantile, familial (TBC1D24)
• Allelic: Neuropathy, inflammatory demyelinating (PMP22)
• Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
• Allelic: Optic atrophy 1 (OPA1)
• Allelic: Osteoarthritis with mild chondrodysplasia (COL2A1)
• Allelic: Osteofibrous dysplasia, susceptibility to (MET)
• Allelic: Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
• Allelic: Pfeiffer syndrome (FGFR2)
• Allelic: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
• Allelic: Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• Allelic: Polyendocrine-polyneuropathy syndrome (DMXL2)
• Allelic: Renal cell carcinoma, papillary, 1, familial + somatic (MET)
• Allelic: Renal hypodysplasia/aplasia 3 (GREB1L)
• Allelic: Retinal disease in Usher syndrome type IIA, modifier of (PDZD7)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• Allelic: Retinitis pigmentosa 39 (USH2A)
• Allelic: Retinitis pigmentosa 61 (CLRN1)
• Allelic: Rhabdomyosarcoma 2, alveolar (PAX3)
• Allelic: Roussy-Levy syndrome (PMP22)
• Allelic: SADDAN [Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans] (FGFR3)
• Allelic: SED congenita (COL2A1)
• Allelic: SMED Strudwick type (COL2A1)
• Allelic: Saethre-Chotzen syndrome (FGFR2)
• Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Allelic: Scaphocephaly with maxillary retrusion + mental retardation (FGFR2)
• Allelic: Short QT syndrome 2 (KCNQ1)
• Allelic: Skin/hair/eye pigmentation 7, blond/brown hair (KITLG)
• Allelic: Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
• Allelic: Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Allelic: Spondyloperipheral dysplasia (COL2A1)
• Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
• Allelic: Thanatophoric dysplasia, type I + II (FGFR3)
• Allelic: Very Early Onset Inflammatory Bowel Disease [panelapp] (STXBP3)
• Allelic: Vohwinkel syndrome (GJB2)
• Auditory neuropathy, AD, 1 (DIAPH3)
• Auditory neuropathy, AR, 1 (OTOF)
• Deafness + myopia (SLITRK6)
• Deafness [panelapp] (SPATC1L)
• Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
• Deafness, AD 10 (EYA4)
• Deafness, AD 101 (GRXCR2)
• Deafness, AD 11 (MYO7A)
• Deafness, AD 13 (COL11A2)
• Deafness, AD 15 (POU4F3)
• Deafness, AD 17 (MYH9)
• Deafness, AD 20/26 (ACTG1)
• Deafness, AD 22 (MYO6)
• Deafness, AD 22, with hypertrophic cardiomyopathy (MYO6)
• Deafness, AD 23 (SIX1)
• Deafness, AD 25 (SLC17A8)
• Deafness, AD 27 (REST)
• Deafness, AD 28 (GRHL2)
• Deafness, AD 2A (KCNQ4)
• Deafness, AD 2B (GJB3)
• Deafness, AD 34, with/-out inflammation (NLRP3)
• Deafness, AD 36 (TMC1)
• Deafness, AD 37 (COL11A1)
• Deafness, AD 39, with dentinogenesis (DSPP)
• Deafness, AD 3A (GJB2)
• Deafness, AD 3B (GJB6)
• Deafness, AD 40 (CRYM)
• Deafness, AD 41 (P2RX2)
• Deafness, AD 44 (CCDC50)
• Deafness, AD 4A (MYH14)
• Deafness, AD 4B (CEACAM16)
• Deafness, AD 5 (GSDME)
• Deafness, AD 50 (MIR96)
• Deafness, AD 56 (TNC)
• Deafness, AD 6/14/38 (WFS1)
• Deafness, AD 64 (DIABLO)
• Deafness, AD 65 (TBC1D24)
• Deafness, AD 66 (CD164)
• Deafness, AD 67 (OSBPL2)
• Deafness, AD 68 (HOMER2)
• Deafness, AD 69, unilateral or asymmetric (KITLG)
• Deafness, AD 7 (LMX1A)
• Deafness, AD 70 (MCM2)
• Deafness, AD 71 (DMXL2)
• Deafness, AD 72 (SLC44A4)
• Deafness, AD 73 (PTPRQ)
• Deafness, AD 74 (PDE1C)
• Deafness, AD 75 (TRRAP)
• Deafness, AD 76 (PLS1)
• Deafness, AD 77 (ABCC1)
• Deafness, AD 78 (SLC12A2)
• Deafness, AD 79 (SCD5)
• Deafness, AD 8/12 (TECTA)
• Deafness, AD 80 (GREB1L)
• Deafness, AD 81 (ELMOD3)
• Deafness, AD 9 (COCH)
• Deafness, AD [panelapp] (TOP2B)
• Deafness, AD, with peripheral neuropathy (GJB3)
• Deafness, AR (GJB3)
• Deafness, AR 100 (PPIP5K2)
• Deafness, AR 102 (EPS8)
• Deafness, AR 103 (CLIC5)
• Deafness, AR 104 (RIPOR2)
• Deafness, AR 106 (EPS8L2)
• Deafness, AR 107 (WBP2)
• Deafness, AR 108 (ROR1)
• Deafness, AR 109 (ESRP1)
• Deafness, AR 110 (COCH)
• Deafness, AR 111 (MPZL2)
• Deafness, AR 112 (BDP1)
• Deafness, AR 113 (CEACAM16)
• Deafness, AR 114 (GRAP)
• Deafness, AR 115 (SPNS2)
• Deafness, AR 116 (CLDN9)
• Deafness, AR 117 (CLRN2)
• Deafness, AR 119 (SPATA5L1)
• Deafness, AR 12 (CDH23)
• Deafness, AR 12, modifier of (ATP2B2)
• Deafness, AR 15 (GIPCY3)
• Deafness, AR 16 (STRC)
• Deafness, AR 18A (USH1C)
• Deafness, AR 18B (OTOG)
• Deafness, AR 1A (GJB2)
• Deafness, AR 1B (GJB6)
• Deafness, AR 2 (MYO7A)
• Deafness, AR 21 (TECTA)
• Deafness, AR 22 (OTOA)
• Deafness, AR 23 (PCDH15)
• Deafness, AR 24 (RDX)
• Deafness, AR 25 (GRXCR1)
• Deafness, AR 26 (GAB1)
• Deafness, AR 28 (TRIOBP)
• Deafness, AR 29 (CLDN14)
• Deafness, AR 3 (MYO15A)
• Deafness, AR 30 (MYO3A)
• Deafness, AR 31 (WHRN)
• Deafness, AR 32, with/-out immotile sperm (CDC14A)
• Deafness, AR 35 (ESRRB)
• Deafness, AR 36 (ESPN)
• Deafness, AR 37 (MYO6)
• Deafness, AR 39 (HGF)
• Deafness, AR 4, with enlarged vestibular aqueduct (SLC26A4)
• Deafness, AR 42 (ILDR1)
• Deafness, AR 44 (ADCY1)
• Deafness, AR 48 (CIB2)
• Deafness, AR 49 (MARVELD2)
• Deafness, AR 53 (COL11A2)
• Deafness, AR 57 (PDZD7)
• Deafness, AR 59 (PJVK)
• Deafness, AR 6 (TMIE)
• Deafness, AR 61 (SLC26A5)
• Deafness, AR 63 (LRTOMT)
• Deafness, AR 66 (DCDC2)
• Deafness, AR 67 (LHFPL5)
• Deafness, AR 68 (S1PR2)
• Deafness, AR 7 (TMC1)
• Deafness, AR 70 (PNPT1)
• Deafness, AR 71 (DFNB71)
• Deafness, AR 74 (MSRB3)
• Deafness, AR 76 (SYNE4)
• Deafness, AR 77 (LOXHD1)
• Deafness, AR 79 (TPRN)
• Deafness, AR 8/10 (TMPRSS3)
• Deafness, AR 84A (PTPRQ)
• Deafness, AR 84B (OTOGL)
• Deafness, AR 86 (TBC1D24)
• Deafness, AR 88 (ELMOD3)
• Deafness, AR 89 (KARS1)
• Deafness, AR 9 (OTOF)
• Deafness, AR 91 (SERPINB6)
• Deafness, AR 93 (CABP2)
• Deafness, AR 94 (NARS2)
• Deafness, AR 97 (MET)
• Deafness, AR 98 (TSPEAR)
• Deafness, AR 99 (TMEM132E)
• Deafness, Dig GJB2/GJB3 (GJB2, GJB3)
• Deafness, Dig GJB2/GJB6 (GJB2, GJB6)
• Deafness, XL 1 (PRPS1)
• Deafness, XL 2 (POU3F4)
• Deafness, XL 4 (SMPX)
• Deafness, XL 5 (AIFM1)
• Deafness, XL 6 (COL4A6)
• Deafness, XL 7 (GPRASP2)
• Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
• Deafness, congenital with inner ear agenesis, microtia + microdontia (FGF3)
• Deafness, congenital, with onychodystrophy, AD (ATP6V1B2)
• Deafness, neurosensory, AR 47 (DFNB47)
• Deafness, neurosensory, without vestibular involvement, AD (ESPN)
• Dejerine-Sottas disease (PMP22)