Klinische FragestellungHörverlust, großes Panel inkl. Syndrome; Differentialdiagnose

NGS +

Bei Hörstörungen bzw. Hörverlust kann unterschieden werden zwischen Schallleitungsstörungen (äußeres Ohr und Mittelohr), Schallempfindungsstörungen (Innenohr) und zentraler auditiver Dysfunktion (Nervus acusticus, Hirnstamm oder Großhirnrinde). Kombinierte Formen sind möglich. Hörstörungen können angeboren sein oder sich im Laufe des Lebens manifestieren. Sowohl isolierte Formen (ohne Begleitsymptome) als auch syndromale Formen (in Kombination mit weiteren Symptomen/Erkrankungen) sind bekannt. Unterschiedliche Ursachen können zu den unterschiedlichen Formen des Hörverlustes führen (Traumata, (pränatale) Infektionen und sehr häufig genetische Ursachen). Sowohl der klinische Befund (Art, Ausprägung und Beginn der Hörstörung) als auch die Familienanamnese geben Hinweise auf die Ursache der Hörstörung.

Genetisch bedingte Hörstörungen sind ätiologisch ausgesprochen heterogen und können unterschiedlichen Erbmustern folgen. Bisher sind allein über 150 Gene identifiziert worden, die mit nicht-syndromalem Hörverlust assoziiert sind (meist autosomal-rezessiver oder seltener autosomal-dominanter, selten X-chromosomaler oder mitochondrialer Erbgang). Auch ein großer Anteil der mit Hörverlust/Hörstörungen einhergehenden syndromalen Erkrankungen ist genetisch bedingt (z.B. Alport-Syndrom, Norrie-Syndrom, Pendred-Syndrom, Usher Syndrom, Waardenburg-Syndrom u.v.a.m).

In der mitteleuropäischen Bevölkerung ist die häufigste Ursache nicht-syndromaler, angeborener Schwerhörigkeit GJB2-Gen assoziiert („Connexin 26-Gen“, autosomal-rezessiv vererbt; ca. 30-50% der Fälle mit nicht-syndromaler angeborener Schwerhörigkeit). In seltenen Fällen ist eine Hörstörung auf pathogene Varianten sowohl in GJB2 als auch in GJB6 zurückzuführen („digene Vererbung“).

Aufgrund der hohen Anzahl der mit nicht-syndromaler Schwerhörigkeit assoziierten Gene ist eine Stufendiagnostik sinnvoll, wobei zunächst das GJB2-und das GJB6-Gen untersucht wird und bei unauffälligem Befund ein größeres Gen-Panel zur Anwendung kommen kann.

Wenn in einer Familie eine genetisch bedingte Hörstörung identifiziert wurde, kann Verwandten eine (prädiktive) Untersuchung auf die familiär identifizierte(n) Variante(n) angeboten werden, um ggf. eine frühzeitige Behandlung der Hörstörung einleiten zu können.

https://www.ncbi.nlm.nih.gov/books/NBK1434/

https://www.ncbi.nlm.nih.gov/books/NBK1272/

https://hereditaryhearingloss.org

• 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 1, acquired, susceptibility to (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)
• 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
• 3MC syndrome 1 (MASP1)
• ABCD syndrome (EDNRB)
• Acrofacial dysostosis 1, Nager type (SF3B4)
• Acrofacial dysostosis, Cincinnati type (POLR1A)
• Alport syndrome 1, XL (COL4A5)
• Alstrom syndrome (ALMS1)
• Arts syndrome (PRPS1)
• Auditory neuropathy + optic atrophy (FDXR)
• Auditory neuropathy, AD, 1 (DIAPH3)
• Auditory neuropathy, AR, 1 (OTOF)
• Auriculocondylar syndrome 1 (GNAI3)
• Auriculocondylar syndrome 2 (PLCB4)
• Baraitser-Winter syndrome 2 (ACTG1)
• Bart-Pumphrey syndrome (GJB2)
• Bartter syndrome, type 4a (BSND)
• Bjornstad syndrome (BCS1L)
• Branchiooculofacial syndrome (TFAP2A)
• Branchiootic syndrome 1 (EYA1)
• Branchiootic syndrome 2 (SIX5)
• Branchiootic syndrome 3 (SIX1)
• Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
• Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
• CATSHL [CAmptodactyly, Tall Stature, Hearing Loss] syndrome (FGFR3)
• CEBALID syndrome (MN1)
• CHARGE syndrome (CHD7)
• COMMAD syndrome (MITF)
• Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
• Charcot-Marie-Tooth disease + deafness (PMP22)
• Charcot-Marie-Tooth disease, type 1E (PMP22)
• Chudley-McCullough syndrome (GPSM2)
• Cochlea malformations [panelapp] (FOXF2)
• Coenzyme Q10 deficiency, primary, 2 (PDSS1)
• Combined oxidative phosphorylation deficiency 24 (NARS2)
• Combined oxidative phosphorylation deficiency 6 (AIFM1)
• Cone-rod dystrophy + hearing loss (CEP78)
• Cone-rod dystrophy and hearing loss 2 (CEP250)
• Congenital anomalies kidney/urinary tract syn. +/- hearing loss, abnormal ears, or dev. delay (PBX1)
• Congenital disorder of glycosylation, type IIj (COG4)
• Corneal endothelial dystrophy + perceptive deafness (SLC4A11)
• Cowchock syndrome (AIFM1)
• Craniofacial-deafness-hand syndrome (PAX3)
• Cryptophthalmos, unilateral/bilateral, isolated (FREM2)
• D-bifunctional protein deficiency (HSD17B4)
• DOORS syndrome (TBC1D24)
• 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)
• Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (MORC2)
• Diamond Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
• Diets-Jongmans syndrome (KDM3B)
• Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (ATP6V1B1)
• Duane-radial ray syndrome (SALL4)
• EVEN-plus syndrome: Epiphyseal + Vertebral changes, Ears + Nose hypoplasia (HSPA9)
• Enlarged vestibular aqueduct (FOXI1)
• Enlarged vestibular aqueduct, Dig (KCNJ10)
• Epilepsy, hearing loss + mental retardation syndrome (SPATA5)
• Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
• Fazio-Londe disease (SLC52A3)
• Fraser syndrome 1: cryptophthalmos, syndactyly, abnormalities of resp. + urogen. tracts (FRAS1)
• Fraser syndrome 2: cryptophthalmos, syndactyly, abnormalities of resp. + urogen. tracts (FREM2)
• Fraser syndrome 3: cryptophthalmos, syndactyly, abnormalities of resp. + urogen. tracts (GRIP1)
• Hypokalemic tubulopathy + deafness (KCNJ16)
• Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
• Hystrix-like ichthyosis with deafness (GJB2)
• IVIC syndrome (SALL4)
• Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS)
• Jervell + Lange-Nielsen syndrome (KCNQ1)
• Jervell + Lange-Nielsen syndrome 2 (KCNE1)
• Joubert syndrome 10 (OFD1)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Keratitis-ichthyosis-deafness syndrome (GJB2)
• Keratoderma, palmoplantar, with deafness (GJB2)
• Kilquist syndrome (SLC12A2)
• Klippel-Feil syndrome 1, AD (GDF6)
• LADD Lacrimo-auricolo-dento-digitalsyndrome (FGFR2)
• LADD LacrimoAuriculoDentoDigital syndrome (FGF10)
• LADD [LacrimoAuriculoDentoDigital] syndrome (FGFR3)
• Leukodystrophy, hypomyel., 23, ataxia, deafness, liver dysfunction, dilated cardiomyopathy (RNF220)
• Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
• MEDNIK syndrome (AP1S1)
• Macrothrombocytopenia + granulocyte inclusions with/-out nephritis/sensorineural hearing loss (MYH9)
• Mandibulofacial dysostosis with alopecia (EDNRA)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Marshall syndrome (COL11A1)
• Meier-Gorlin syndrome 1 (ORC1)
• Meier-Gorlin syndrome 2 (ORC4)
• Meier-Gorlin syndrome 3 (ORC6)
• Meier-Gorlin syndrome 4 (CDT1)
• Meier-Gorlin syndrome 5 (CDC6)
• Microphthalmia, syndromic 3 (SOX2)
• Microphthalmia, syndromic 5 (OTX2)
• Microphthalmia, syndromic 6 (BMP4)
• Microtia with/-out hearing impairment, AD (HOXA2)
• Microtia, hearing impairment + cleft palate, AR (HOXA2)
• Miller syndrome (DHODH)
• Mohr-Tranebjaerg syndrome (TIMM8A)
• Muscular dystrophy, congenital hearing loss + ovarian insufficiency syndrome (GGPS1)
• Nephrotic syndrome, type 14 (SGPL1)
• Neurodevelopmental disorder with hearing loss + spasticity (SPATA5L1)
• Neurodevelopmental disorder with hypotonia, neuropathy + deafness (SPTBN4)
• Neuropathy, hereditary sensory, type IE (DNMT1)
• Non-syndromic hearing loss (USp48)
• Nonsyndromic genetic deafness [MONDO:0019497] (THOC)
• Nonsyndromic genetic deafness [MONDO:0019497] (USP48)
• Oculoauricular syndrome (HMX1)
• Optic atrophy plus syndrome (OPA1)
• Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
• Orofacial cleft 11 (BMP4)
• Orofaciodigital syndrome I (OFD1)
• Otofaciocervical syndrome (EYA1)
• PCWH syndrome (SOX10)
• Papillorenal syndrome (PAX2)
• Pendred syndrome (SLC26A4)
• Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
• Perrault syndrome 1 (HSD17B4)
• Perrault syndrome 2 (HARS2)
• Perrault syndrome 3 (CLPP)
• Perrault syndrome 4 (LARS2)
• Piebaldism (KIT, SNAI2)
• Pituitary hormone deficiency, combined, 6 (OTX2)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
• Profound sensorineural hearing loss [panelapp] (FOXF2)
• Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Robin sequence with cleft mandible + limb anomalies (EIF4A3)
• SESAME syndrome (KCNJ10)
• Saul-Wilson syndrome (COG4)
• Sensorineural deafness with mild renal dysfunction (BSND)
• Sensorineural hearing impairment [HP:0000407] (RNF220)
• Sensorineural hearing loss (STXBP3)
• Sensorineural hearing loss [panelapp] (TMTC2)
• Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (GSC)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Stickler syndrome [panelapp] (COL9A3)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type II (COL11A1)
• Stickler syndrome, type IV (COL9A1)
• Stickler syndrome, type V (COL9A2)
• Tietz albinism-deafness syndrome (MITF)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Treacher Collins syndrome 1 (TCOF1)
• Treacher Collins syndrome 2 (POLR1D)
• Treacher Collins syndrome 3 (POLR1C)
• Usher syndrome, type 1B (MYO7A)
• Usher syndrome, type 1C (USH1C)
• Usher syndrome, type 1D/F digenic (PCDH15)
• Usher syndrome, type 1G (USH1G)
• Usher syndrome, type 1J (CIB2)
• Usher syndrome, type 2C (ADGRV1)
• Usher syndrome, type 2C, GPR98/PDZD7 digenic (ADGRV1)
• Usher syndrome, type 2C, GPR98/PDZD7 digenic (PDZD7)
• Usher syndrome, type 2D (WHRN)
• Usher syndrome, type 3A (CLRN1)
• Vertebral, cardiac, renal + limb defects syndrome 1 (HAAO)
• Waardenburg syndrome, type 1 (PAX3)
• Waardenburg syndrome, type 2A (MITF)
• Waardenburg syndrome, type 2D (SNAI2)
• Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
• Waardenburg syndrome, type 3 (PAX3)
• Waardenburg syndrome, type 4A (EDNRB)
• Waardenburg syndrome, type 4B (EDN3)
• Waardenburg syndrome, type 4C (SOX10)
• Waardenburg syndrome/ocular albinism, digenic (MITF)
• Wolfram syndrome 1 (WFS1)
• Wolfram syndrome 2 (CISD2)
• Wolfram-like syndrome, AD (WFS1)
• Zimmermann-Laband syndrome 2 (ATP6V1B2)