Non-Syndromic Sensorineural Deafness
Disease synonyms
Isolated deafness, Isolated hearing loss, Nonsyndromic autosomal dominant deafness, Nonsyndromic autosomal recessive deafness, Nonsyndromic hearing impairment, Nonsyndromic hearing loss and deafness, Nonsyndromic hearing loss
Disease summary:
Deafness, as inability of an affected person to hear is one of the most common birth defects and it can be caused by a number of different factors, including genetics, environment, birth complications, trauma, certain medications and/or toxins1, 2.
Deafness can be classified as follows2, 3:
- Conductive deafness that results from abnormalities of the external and/or the middle ear
- Sensorineural deafness that results from dysfunction of inner ear structures
- Mixed deafness that is a combination of conductive and sensorineural deafness type
- Central auditory dysfunction that results from dysfunction of the eighth cranial nerve, auditory brain stem, or cerebral cortex
Hereditary hearing loss can present as syndromic (e.g. associated with abnormalities in other body systems) or non-syndromic (isolated) deafness. It can be inherited in an autosomal dominant or recessive pattern.
Autosomal dominant, autosomal recessive
1-3/1,000 newborns worldwide 1, 2
Non-syndromic deafness should be suspected in individuals with the following signs or/and symptoms 2, 3:
- Congenital non-progressive sensorineural deafness or deficiency that is mild (26-40 dB) to profound (90 dB)
- Absence of systemic findings identified by clinical/physical examination and medical history
- Family history of non-syndromic sensorineural deafness.
- The diagnosis of non-syndromic sensorineural autosomal dominant deafness relies on clinical findings and family history.
- Diagnosis is confirmed by the identification of pathogenic variant(s) in one of the following genes:
- Autosomal dominant: ACTG1, CCDC50, COCH, COL11A2, CRYM, DFNA5, DIABLO, DIAPH1, DIAPH3, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH14, MYH9, MYO6, MYO7A, POU3F4, POU4F3, PRPS1, SIX1, SLC17A8, SMPX, TECTA, TJP2, TMC1, WFS1
- Autosomal recessive: CDH23, CLDN14, COL11A2, DFNB31, DFNB59, ESPN, ESRRB, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, KCNJ10, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU3F4, PRPS1, PTPRQ, RDX, SERPINB6, SLC12A1, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C
There is no cure for non-syndromic sensorineural deafness to date, but treatment options are available 2.
- Hearing aids
- Vibrotactile devices
- Cochlear implants and many other assisting aids.
- Otologic surgery.
- Landau-Kleffner syndrome Usher syndrome type I caused by pathogenic variant in MYO7A, USH1C, CDH23, PCDH15, USH1G, and CIB2
- Usher syndrome type II caused by pathogenic variant in USH2A, ADGRV1, DFNB31
- Usher syndrome type III caused by pathogenic variant in CLRN1
- Pendred syndrome caused by pathogenic variant in SLC26A4
- Jervell and Lange-Nielsen syndrome caused by pathogenic variant in KCNQ1 or KCNE1
To confirm/establish the diagnosis, CENTOGENE offers the following testing strategy for non-syndromic sensorineural autosomal dominant/ autosomal recessive deafness using NGS Panel Genomic:
Step 1: Whole genome sequencing from a single filter card (drop of blood), covering the entire genic region (coding region, exon/intron boundaries, intronic and promoter) for all the genes included in the non-syndromic sensorineural autosomal dominant/ autosomal recessive deafness panels. Copy Number Variants analysis derived from NGS data is also included.
Step 2: If no pathogenic variant is identified in Step1, continue with bioinformatics analysis covering genes that are either implicated or associated with overlapping phenotype or similar pathways.
- Individuals with a positive family history of non-syndromic sensorineural deafness.
- Individuals with most common symptoms of non-syndromic sensorineural deafness (regardless of family history).
Confirmation of a clinical diagnosis through genetic testing of non-syndromic sensorineural deafness can allow for genetic counseling and may direct medical management and treatment options.
Genes associated with non-syndromic sensorineural deafness encode structural proteins, cytoskeletal proteins, transcription factors and transmembrane proteins amongst others (Table 1).
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ACTB | 102630 | Baraitser-Winter syndrome 1; Dystonia, juvenile-onset | AD |
ACTG1 | 102560 | Deafness, Autosomal Dominant 20; Baraitser-Winter syndrome 2 | AD |
ADCY1 | 103072 | autosomal recessive deafness, 44 | AR |
ADGRV1 | 602851 | Febrile seizures, familial, 4; Usher syndrome type 2C | AD, AR, DiD |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
ANKH | 605145 | Chondrocalcinosis 2; Craniometaphyseal dysplasia | AD |
ATP2B2 | 108733 | deafness type 12 | AR |
ATP6V1B1 | 192132 | Renal tubular acidosis with deafness | AR |
ATP6V1B2 | 606939 | Congenital deafness with onychodystrophy; Zimmermann-Laband syndrome type 2 | AD |
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BDP1 | 607012 | AR | |
BSND | 606412 | Bartter Syndrome type 4A | AR |
BTD | 609019 | biotinidase deficiency | AR |
CABP2 | 607314 | deafness type 93 | AR |
CACNA1D | 114206 | Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities | AD, AR |
CCDC50 | 611051 | DEAFNESS, AUTOSOMAL DOMINANT 44 | AD |
CD151 | 602243 | ||
CD164 | 603356 | AD | |
CDC14A | 603504 | Autosomal recessive deafness with or without immotile sperm type 32 | AR |
CDH23 | 605516 | Usher syndrome type 1D; deafness type 12; susceptibility to pituitary adenomas | AD, AR, DiR |
CDKN1C | 600856 | Beckwith-Wiedemann syndrome; IMAGE syndrome | AD |
CEACAM16 | 614591 | deafness type 4B | AD, AR |
CEP78 | 617110 | AR | |
CHD7 | 608892 | CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia | AD |
CHSY1 | 608183 | AR | |
CIB2 | 605564 | deafness type 48; Usher syndrome type 1J | AR |
CISD2 | 611507 | Wolfram syndrome 2 | AR |
CLDN14 | 605608 | deafness type 29 | AR |
CLIC5 | 607293 | AR | |
CLPP | 601119 | Perrault syndrome 3 | AR |
CLRN1 | 606397 | Usher Syndrome type 3A; retinitis pigmentosa type 61 | AR |
COCH | 603196 | Deafness, autosomal dominant 9 | AD, AR |
COL11A1 | 120280 | Marshall syndrome; Fibrochondrogenesis 1; Stickler syndrome 2 | AD, AR |
COL11A2 | 120290 | Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 | AD, AR |
COL2A1 | 120140 | Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia | AD |
COL4A3 | 120070 | Alport syndrome 3, AD; benign familial hematuria benign familial; Alport syndrome, AR | AD, AR |
COL4A4 | 120131 | benign familial hematuria benign familial; Alport syndrome, AR | AD, AR |
COL4A5 | 303630 | Alport syndrome | XLD |
COL4A6 | 303631 | deafness type 6 | XLR |
COL9A1 | 120210 | Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6 | AD |
COL9A2 | 120260 | Stickler syndrome, type V | AD, AR |
COL9A3 | 120270 | multiple epiphyseal dysplasia type 3 | AD |
CRYM | 123740 | Deafness, autosomal dominant 40 | AD |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DCDC2 | 605755 | nephronophthisis 19; neonatal sclerosing cholangitis | AR |
DIABLO | 605219 | Deafness, autosomal dominant 64 | AD |
DIAPH1 | 602121 | Deafness, autosomal dominant 1; Seizures, cortical blindness, microcephaly syndrome | AD, AR |
DIAPH3 | 614567 | Auditory neuropathy, autosomal dominant, 1 | AD |
DLX5 | 600028 | Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive | AD, AR |
DMXL2 | 612186 | Polyendocrine-polyneuropathy syndrome; ?Deafness, autosomal dominant 71 | AD, AR |
DNMT1 | 126375 | cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE | AD |
DSPP | 125485 | Dentin dysplasia type II; Dentinogenesis imperfecta, Shields type II; Dentinogenesis imperfecta, Shields type III | AD |
EDN3 | 131242 | congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 | AD, AR |
EDNRB | 131244 | Waardenburg syndrome type 4A; Hirschsprung disease, susceptibility to, 2; ABCD syndrome | AD, AR |
ELMOD3 | 615427 | AR | |
EPS8 | 600206 | AR | |
EPS8L2 | 614988 | AR | |
ESPN | 606351 | deafness type 36 | AR |
ESRP1 | 612959 | AR | |
ESRRB | 602167 | deafness type 35 | AR |
EYA1 | 601653 | Branchiootorenal Syndrome 1; Otofaciocervical Syndrome 1; Branchiootic syndrome 1 | AD |
EYA4 | 603550 | Deafness, autosomal dominant 10; dilated cardiomyopathy-1J | AD |
FDXR | 103270 | auditory neuropathy and optic atrophy | AR |
FGF3 | 164950 | Deafness, congenital with inner ear agenesis, microtia, and microdontia | AR |
FGFR1 | 136350 | Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome | AD |
FGFR2 | 176943 | Apert syndrome; Saethre-Chotzen Syndrome; Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; Crouzon syndrome; Beare-Stevenson cutis gyrata syndrome; Lacrimoauriculodentodigital Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly, maxillary retrusion, and mental retardation; Gastric Cancer; Bent bone dysplasia syndrome | AD |
FGFR3 | 134934 | Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans | AD, AR |
FOXI1 | 601093 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct | AR |
GAB1 | 604439 | AR | |
GATA3 | 131320 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | AD |
GIPC3 | 608792 | deafness type 15 | AR |
GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
GJB2 | 121011 | Vohwinkel syndrome; keratitis-ichthyosis-deafness syndrome; palmoplantar keratoderma with deafness; Bart-Pumphrey syndrome; nonsyndromic hearing loss; autosomal dominant deafness type 3A; Hystrix-like ichthyosis with deafness | AD, AR, DiD |
GJB3 | 603324 | erythrokeratoderma variabilis progressive type 1; nonsyndromic hearing loss; Deafness, autosomal dominant 2B | AD, AR, DiD |
GJB6 | 604418 | Clouston Syndrome; nonsyndromic hearing loss; autosomal dominant deafness type 3B; deafness type 1B | AD, AR, DiD |
GPRASP2 | 300969 | XLR | |
GPSM2 | 609245 | Chudley-McCullough syndrome | AR |
GRHL2 | 608576 | Deafness, autosomal dominant 28; Ectodermal dysplasia/short stature syndrome | AD, AR |
GRXCR1 | 613283 | Deafness, autosomal recessive 25 | AR |
GRXCR2 | 615762 | AR | |
GSDME | 608798 | Deafness, autosomal dominant 5 | AD |
HARS1 | 142810 | axonal Charcot-Marie-tooth disease type 2W | AD, AR |
HARS2 | 600783 | AR | |
HGF | 142409 | deafness type 39 | AR |
HOMER2 | 604799 | AD | |
HOXB1 | 142968 | Facial paresis, hereditary congenital, 3 | AR |
HSD17B4 | 601860 | Perrault syndrome type 1; D-bifunctional protein deficiency | AR |
ILDR1 | 609739 | deafness type 42 | AR |
KARS1 | 601421 | CHARCOT-MARIE-TOOTH, RECESSIVE INTERMEDIATE TYPE B; Deafness, autosomal recessive 89 | AR |
KCNE1 | 176261 | Jervell and Lange-Nielsen syndrome 2; long QT syndrome 5 | AD, AR |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KCNQ1 | 607542 | long QT syndrome-1; Jervell and Lange-Nielsen syndrome; Atrial fibrillation, familial, 3; Short QT syndrome-2 | AD, AR |
KCNQ4 | 603537 | Deafness, autosomal dominant 2A | AD |
KIT | 164920 | Mast cell disease; Piebaldism; Spermatocytic seminoma, somatic; acute myeloid leukemia; gastrointestinal stromal tumor | AD |
KITLG | 184745 | AD | |
LARS2 | 604544 | Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia | AR |
LHFPL5 | 609427 | deafness type 67 | AR |
LOXHD1 | 613072 | deafness type type 77 | AR |
LRP2 | 600073 | Donnai-Barrow syndrome | AR |
LRTOMT | 612414 | deafness type 63 | AR |
MAN2B1 | 609458 | alpha-mannosidosis | AR |
MANBA | 609489 | Mannosidosis, Beta A, Lysosomal | AR |
MARVELD2 | 610572 | deafness type 49 | AR |
MCM2 | 116945 | AD | |
MET | 164860 | Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 | AD, AR |
MGP | 154870 | Keutel syndrome | AR |
MITF | 156845 | Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 | AD, AR |
MPZL2 | 604873 | AR | |
MSRB3 | 613719 | Deafness, autosomal recessive 74 | AR |
MYH14 | 608568 | deafness type 4A; Peripheral neuropathy, myopathy, hoarseness, and hearing loss | AD |
MYH9 | 160775 | Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 | AD |
MYO15A | 602666 | deafness type 3 | AR |
MYO3A | 606808 | deafness type 30 | AR |
MYO6 | 600970 | deafness type 37 | AD, AR |
MYO7A | 276903 | Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 | AD, AR |
NARS2 | 612803 | Combined oxidative phosphorylation deficiency 24 | AR |
NDP | 300658 | Exudative Vitreoretinopathy 2, X-Linked; Norrie disease | XLD, XLR |
NLRP3 | 606416 | Familial Cold Autoinflammatory Syndrome 1; Muckle-Wells syndrome; CINCA syndrome | AD |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OSBPL2 | 606731 | AD | |
OTOA | 607038 | deafness type 22 | AR |
OTOF | 603681 | deafness type 9 | AR |
OTOG | 604487 | AR | |
OTOGL | 614925 | deafness type 84B | AR |
P2RX2 | 600844 | autosomal dominant deafness type 41 | AD |
PAX3 | 606597 | Waardenburg syndrome, type 3; Waardenburg syndrome type 1 | AD, AR |
PCDH15 | 605514 | Usher syndrome type 1D; Usher syndrome type 1F; deafness type 23 | AR, DiR |
PDZD7 | 612971 | Usher syndrome type 2A; Usher syndrome type 2C; Deafness, autosomal recessive 57 | AR, DiD |
PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
PJVK | 610219 | Deafness, autosomal recessive 59 | AR |
PMP22 | 601097 | type 1A Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; Neuropathy, recurrent, with pressure palsies | ?AD, AD, AR |
PNPT1 | 610316 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 | AR |
POLR1C | 610060 | Treacher collins syndrome 3; hypomyelinating leukodystrophy-11 | AR |
POLR1D | 613715 | Treacher collins syndrome 2 | AD, AR |
POU3F4 | 300039 | Deafness, X-linked 2 | XLR |
POU4F3 | 602460 | Deafness, autosomal dominant 15 | AD |
PRPS1 | 311850 | Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth | XL, XLR |
RDX | 179410 | Deafness, autosomal recessive 24 | AR |
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
ROR1 | 602336 | AR | |
RPS6KA3 | 300075 | MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome | XLD |
S1PR2 | 605111 | Deafness, autosomal recessive type 68 | AR |
SALL1 | 602218 | Townes-Brocks syndrome | AD |
SALL4 | 607343 | Okihiro syndrome | AD |
SEMA3E | 608166 | CHARGE syndrome | AD |
SERPINB6 | 173321 | Deafness, autosomal recessive 91 | AR |
SIX1 | 601205 | Deafness, autosomal dominant 23; Brachiootic syndrome 3 | AD |
SIX5 | 600963 | Branchiootorenal syndrome 2 | |
SLC12A1 | 600839 | Bartter syndrome type 1 | AR |
SLC17A8 | 607557 | Deafness, autosomal dominant 25 | AD |
SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
SLC26A4 | 605646 | Pendred syndrome; autosomal recessive deafness type 4 with enlarged vestibular aqueduct | AR |
SLC26A5 | 604943 | Deafness, autosomal recessive 61 | AR |
SLC29A3 | 612373 | Histiocytosis-lymphadenopathy plus syndrome | AR |
SLC33A1 | 603690 | spastic paraplegia 42; Congenital cataracts, hearing loss, and neurodegeneration | AD, AR |
SLC44A4 | 606107 | AD | |
SLC52A2 | 607882 | Brown-Vialetto-Van Laere syndrome 2 | AR |
SLC52A3 | 613350 | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 | AR |
SLITRK6 | 609681 | Deafness and myopia | AR |
SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
SMPX | 300226 | Deafness, X-linked 4 | XLD |
SNAI2 | 602150 | Piebaldism; Waardenburg syndrome type 2d | AD, AR |
SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
SOX2 | 184429 | Microphthalmia, Syndromic 3 | AD |
SPATA5 | 613940 | Epilepsy, hearing loss, and mental retardation syndrome | AR |
STRC | 606440 | deafness type 16 | AR |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SUCLG1 | 611224 | mitochondrial DNA depletion syndrome 9 | AR |
SYNE4 | 615535 | deafness, autosomal recessive 76 | AR |
TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
TBX1 | 602054 | Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations | AD |
TCOF1 | 606847 | Treacher Collins syndrome type 1 | AD |
TECTA | 602574 | Deafness, autosomal dominant 8/12; deafness type 21 | AD, AR |
TFAP2A | 107580 | Branchiooculofacial syndrome | AD |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TJP2 | 607709 | Hypercholanemia, familial; Cholestasis, progressive familial intrahepatic 4 | AR |
TMC1 | 606706 | deafness type 7 | AD, AR |
TMIE | 607237 | Deafness, autosomal recessive 6 | AR |
TMPRSS3 | 605511 | deafness type 8 | AR |
TNC | 187380 | Deafness, autosomal dominant 56 | AD |
TPRN | 613354 | deafness type 79 | AR |
TRIOBP | 609761 | deafness type 28 | AR |
TRMU | 610230 | Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient | AR, M |
TSPEAR | 612920 | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | AR |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
TYR | 606933 | Albinism, Ocular, With Sensorineural Deafness; oculocutaneous albinism type 1A; Skin/hair/eye pigmentation 3; Albinism, oculocutaneous, type IB | AD, AR |
USH1C | 605242 | Usher syndrome type IC; deafness type 18A | AR |
USH1G | 607696 | Usher syndrome type 1G | AR |
USH2A | 608400 | Usher syndrome type 2A; retinitis pigmentosa type 39 | AR |
VCAN | 118661 | Wagner syndrome 1 | AD |
WBP2 | 606962 | AR | |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WHRN | 607928 | deafness type 31; Usher syndrome type 2D | AR |