HEARING LOSS
Title | Phenotype | Inheritance |
---|---|---|
ACTG1 | baraitser-winter syndrome 2 | AD |
ACTG1 | deafness, autosomal dominant 20/26 | AD |
ADCY1 | ?deafness, autosomal recessive 44 | AR |
ACTB | ?dystonia, juvenile-onset | AD |
ACTB | baraitser-winter syndrome 1 | AD |
TFAP2A | branchiooculofacial syndrome | AD |
COL4A3 | alport syndrome 2, autosomal recessive | AR |
COL4A3 | alport syndrome 3, autosomal dominant | AD |
COL4A3 | hematuria, benign familial | AD |
COL4A4 | alport syndrome 2, autosomal recessive | AR |
COL4A4 | hematuria, familial benign | AD |
COL9A1 | ?epiphyseal dysplasia, multiple, 6 | AD |
COL9A1 | stickler syndrome, type iv | |
COL9A3 | {intervertebral disc disease, susceptibility to} | |
COL9A3 | epiphyseal dysplasia, multiple, 3, with or without myopathy | AD |
CACNA1D | primary aldosteronism, seizures, and neurologic abnormalities | AD |
CACNA1D | sinoatrial node dysfunction and deafness | AR |
COL2A1 | achondrogenesis, type ii or hypochondrogenesis | AD |
COL2A1 | avascular necrosis of the femoral head | AD |
COL2A1 | czech dysplasia | AD |
COL2A1 | epiphyseal dysplasia, multiple, with myopia and deafness | AD |
COL2A1 | kniest dysplasia | AD |
COL2A1 | legg-calve-perthes disease | AD |
COL2A1 | osteoarthritis with mild chondrodysplasia | AD |
COL2A1 | platyspondylic skeletal dysplasia, torrance type | AD |
COL2A1 | sed congenita | AD |
COL2A1 | smed strudwick type | AD |
COL2A1 | spondyloepiphyseal dysplasia, stanescu type | AD |
COL2A1 | spondyloperipheral dysplasia | AD |
COL2A1 | stickler sydrome, type i, nonsyndromic ocular | AD |
COL2A1 | stickler syndrome, type i | AD |
COL2A1 | vitreoretinopathy with phalangeal epiphyseal dysplasia | |
COL9A2 | ?stickler syndrome, type v | AR |
COL9A2 | epiphyseal dysplasia, multiple, 2 | AD |
CDC42 | takenouchi-kosaki syndrome | AD |
COL11A1 | ?deafness, autosomal dominant 37 | |
COL11A1 | {lumbar disc herniation, susceptibility to} | |
COL11A1 | fibrochondrogenesis 1 | AR |
COL11A1 | marshall syndrome | AD |
COL11A1 | stickler syndrome, type ii | AD |
COL11A2 | deafness, autosomal dominant 13 | AD |
COL11A2 | deafness, autosomal recessive 53 | AR |
COL11A2 | fibrochondrogenesis 2 | AD, AR |
COL11A2 | otospondylomegaepiphyseal dysplasia, autosomal dominant | AD |
COL11A2 | otospondylomegaepiphyseal dysplasia, autosomal recessive | AR |
CRYM | deafness, autosomal dominant 40 | AD |
ERCC2 | ?cerebrooculofacioskeletal syndrome 2 | AR |
ERCC2 | trichothiodystrophy 1, photosensitive | AR |
ERCC2 | xeroderma pigmentosum, group d | AR |
DSPP | deafness, autosomal dominant 39, with dentinogenesis | AD |
DSPP | dentin dysplasia, type ii | AD |
DSPP | dentinogenesis imperfecta, shields type ii | AD |
DSPP | dentinogenesis imperfecta, shields type iii | AD |
GJB2 | bart-pumphrey syndrome | AD |
GJB2 | deafness, autosomal dominant 3a | AD |
GJB2 | deafness, autosomal recessive 1a | AR, DD |
GJB2 | hystrix-like ichthyosis with deafness | AD |
GJB2 | keratitis-ichthyosis-deafness syndrome | AD |
GJB2 | keratoderma, palmoplantar, with deafness | AD |
GJB2 | vohwinkel syndrome | AD |
EDN3 | {hirschsprung disease, susceptibility to, 4} | AD |
EDN3 | central hypoventilation syndrome, congenital | AD |
EDN3 | waardenburg syndrome, type 4b | AD, AR |
GATA3 | hypoparathyroidism, sensorineural deafness, and renal dysplasia | AD |
EDNRB | {hirschsprung disease, susceptibility to, 2} | AD |
EDNRB | abcd syndrome | AR |
EDNRB | waardenburg syndrome, type 4a | AD, AR |
ERCC3 | trichothiodystrophy 2, photosensitive | AR |
ERCC3 | xeroderma pigmentosum, group b | AR |
GJA1 | atrioventricular septal defect 3 | AD |
GJA1 | craniometaphyseal dysplasia, autosomal recessive | AR |
GJA1 | erythrokeratodermia variabilis et progressiva 3 | AD |
GJA1 | hypoplastic left heart syndrome 1 | AR |
GJA1 | oculodentodigital dysplasia | AD |
GJA1 | oculodentodigital dysplasia, autosomal recessive | AR |
GJA1 | palmoplantar keratoderma with congenital alopecia | AD |
GJA1 | syndactyly, type iii | AD |
FGFR1 | encephalocraniocutaneous lipomatosis, somatic mosaic | |
FGFR1 | hartsfield syndrome | AD |
FGFR1 | hypogonadotropic hypogonadism 2 with or without anosmia | AD |
FGFR1 | jackson-weiss syndrome | AD |
FGFR1 | osteoglophonic dysplasia | AD |
FGFR1 | pfeiffer syndrome | AD |
FGFR1 | trigonocephaly 1 | AD |
HGF | deafness, autosomal recessive 39 | AR |
HOXB1 | facial paresis, hereditary congenital, 3 | AR |
MITF | {melanoma, cutaneous malignant, susceptibility to, 8} | |
MITF | commad syndrome | AR |
MITF | tietz albinism-deafness syndrome | AD |
MITF | waardenburg syndrome, type 2a | AD |
MITF | waardenburg syndrome/ocular albinism, digenic | |
MYH9 | deafness, autosomal dominant 17 | AD |
MYH9 | macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD |
MET | ?deafness, autosomal recessive 97 | AR |
MET | {osteofibrous dysplasia, susceptibility to} | AD |
MET | hepatocellular carcinoma, childhood type, somatic | |
MET | renal cell carcinoma, papillary, 1, familial and somatic | |
FGF3 | deafness, congenital with inner ear agenesis, microtia, and microdontia | AR |
SERPINB6 | ?deafness, autosomal recessive 91 | AR |
KCNE1 | jervell and lange-nielsen syndrome 2 | AR |
KCNE1 | long qt syndrome 5 | AD |
FGFR2 | antley-bixler syndrome without genital anomalies or disordered steroidogenesis | AD |
FGFR2 | apert syndrome | AD |
FGFR2 | beare-stevenson cutis gyrata syndrome | AD |
FGFR2 | bent bone dysplasia syndrome | AD |
FGFR2 | craniofacial-skeletal-dermatologic dysplasia | AD |
FGFR2 | craniosynostosis, nonspecific | |
FGFR2 | crouzon syndrome | AD |
FGFR2 | gastric cancer, somatic | |
FGFR2 | jackson-weiss syndrome | AD |
FGFR2 | ladd syndrome | AD |
FGFR2 | pfeiffer syndrome | AD |
FGFR2 | saethre-chotzen syndrome | AD |
FGFR2 | scaphocephaly and axenfeld-rieger anomaly | |
FGFR2 | scaphocephaly, maxillary retrusion, and mental retardation | |
RDX | deafness, autosomal recessive 24 | AR |
KITLG | [skin/hair/eye pigmentation 7, blond/brown hair] | |
KITLG | deafness, autosomal dominant 69, unilateral or asymmetric | AD |
KITLG | hyperpigmentation with or without hypopigmentation | AD |
TNC | deafness, autosomal dominant 56 | AD |
ATP6V1B1 | renal tubular acidosis with deafness | AR |
MYO7A | deafness, autosomal dominant 11 | AD |
MYO7A | deafness, autosomal recessive 2 | AR |
MYO7A | usher syndrome, type 1b | AR |
POU3F4 | deafness, x-linked 2 | XLR |
TBL1X | hypothyroidism, congenital, nongoitrous, 8 | XL |
AIFM1 | combined oxidative phosphorylation deficiency 6 | XLR |
AIFM1 | cowchock syndrome | XLR |
AIFM1 | deafness, x-linked 5 | XLR |
AIFM1 | spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy | XLR |
SMPX | deafness, x-linked 4 | XLD |
TIMM8A | mohr-tranebjaerg syndrome | XLR |
AMMECR1 | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | XLR |
COL4A6 | ?deafness, x-linked 6 | XLR |
COL4A5 | alport syndrome 1, x-linked | XLD |
PRPS1 | arts syndrome | XLR |
PRPS1 | charcot-marie-tooth disease, x-linked recessive, 5 | XLR |
PRPS1 | deafness, x-linked 1 | XL |
PRPS1 | gout, prps-related | XLR |
PRPS1 | phosphoribosylpyrophosphate synthetase superactivity | XLR |
LRP2 | donnai-barrow syndrome | AR |
EPS8 | ?deafness, autosomal recessive 102 | AR |
NDP | exudative vitreoretinopathy 2, x-linked | XLD, XLR |
NDP | norrie disease | XLR |
LHX3 | pituitary hormone deficiency, combined, 3 | AR |
HARS2 | ?perrault syndrome 2 | AR |
P2RX2 | deafness, autosomal dominant 41 | AD |
SMAD4 | juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | AD |
SMAD4 | myhre syndrome | AD |
SMAD4 | pancreatic cancer, somatic | |
SMAD4 | polyposis, juvenile intestinal | AD |
MYO6 | deafness, autosomal dominant 22 | AD |
MYO6 | deafness, autosomal dominant 22, with hypertrophic cardiomyopathy | AD |
MYO6 | deafness, autosomal recessive 37 | AR |
FOXI1 | enlarged vestibular aqueduct | AR |
CLPP | perrault syndrome 3 | AR |
SIX5 | branchiootorenal syndrome 2 | |
SIX1 | branchiootic syndrome 3 | AD |
SIX1 | deafness, autosomal dominant 23 | AD |
PMP22 | ?neuropathy, inflammatory demyelinating | ?AD |
PMP22 | charcot-marie-tooth disease, type 1a | AD |
PMP22 | charcot-marie-tooth disease, type 1e | AD |
PMP22 | dejerine-sottas disease | AD, AR |
PMP22 | neuropathy, recurrent, with pressure palsies | AD |
PMP22 | roussy-levy syndrome | AD |
PEX6 | heimler syndrome 2 | AR |
PEX6 | peroxisome biogenesis disorder 4a (zellweger) | AR |
PEX6 | peroxisome biogenesis disorder 4b | AD, AR |
EYA1 | ?otofaciocervical syndrome | AD |
EYA1 | anterior segment anomalies with or without cataract | AD |
EYA1 | branchiootic syndrome 1 | AD |
EYA1 | branchiootorenal syndrome 1, with or without cataracts | AD |
HSD17B4 | d-bifunctional protein deficiency | AR |
HSD17B4 | perrault syndrome 1 | AR |
TBX1 | conotruncal anomaly face syndrome | |
TBX1 | digeorge syndrome | AD |
TBX1 | tetralogy of fallot | AD |
TBX1 | velocardiofacial syndrome | AD |
SNAI2 | piebaldism | AD |
SNAI2 | waardenburg syndrome, type 2d | AR |
PEX1 | heimler syndrome 1 | AR |
PEX1 | peroxisome biogenesis disorder 1a (zellweger) | AR |
PEX1 | peroxisome biogenesis disorder 1b (nald/ird) | AR |
ESRRB | deafness, autosomal recessive 35 | AR |
DIAPH1 | deafness, autosomal dominant 1 | AD |
DIAPH1 | seizures, cortical blindness, microcephaly syndrome | AR |
ROR1 | ?deafness, autosomal recessive 108 | AR |
KCNJ10 | enlarged vestibular aqueduct, digenic | AR |
KCNJ10 | sesame syndrome | AR |
POU4F3 | deafness, autosomal dominant 15 | AD |
SOX10 | pcwh syndrome | AD |
SOX10 | waardenburg syndrome, type 2e, with or without neurologic involvement | AD |
SOX10 | waardenburg syndrome, type 4c | AD |
MYO15A | deafness, autosomal recessive 3 | AR |
TECTA | deafness, autosomal dominant 8/12 | AD |
TECTA | deafness, autosomal recessive 21 | AR |
ADGRV1 | ?febrile seizures, familial, 4 | AD |
ADGRV1 | usher syndrome, type 2c | AR, DD |
ADGRV1 | usher syndrome, type 2c, gpr98/pdzd7 digenic | AR, DD |
COCH | ?deafness, autosomal recessive 110 | AR |
COCH | deafness, autosomal dominant 9 | AD |
CD164 | ?deafness, autosomal dominant 66 | AD |
GJB3 | deafness, autosomal dominant 2b | AD |
GJB3 | deafness, autosomal dominant, with peripheral neuropathy | |
GJB3 | deafness, autosomal recessive | |
GJB3 | deafness, digenic, gjb2/gjb3 | AR, DD |
GJB3 | erythrokeratodermia variabilis et progressiva 1 | AD, AR |
CDC14A | deafness, autosomal recessive 32, with or without immotile sperm | AR |
PTPRQ | deafness, autosomal dominant 73 | AD |
PTPRQ | deafness, autosomal recessive 84a | AR |
EYA4 | ?cardiomyopathy, dilated, 1j | AD |
EYA4 | deafness, autosomal dominant 10 | AD |
BCS1L | bjornstad syndrome | AR |
BCS1L | gracile syndrome | AR |
BCS1L | leigh syndrome | AR, Mi |
BCS1L | mitochondrial complex iii deficiency, nuclear type 1 | AR |
KCNQ4 | deafness, autosomal dominant 2a | AD |
SLC19A2 | thiamine-responsive megaloblastic anemia syndrome | AR |
OTOG | deafness, autosomal recessive 18b | AR |
GJB6 | deafness, autosomal dominant 3b | AD |
GJB6 | deafness, autosomal recessive 1b | AR |
GJB6 | deafness, digenic gjb2/gjb6 | AR, DD |
GJB6 | ectodermal dysplasia 2, clouston type | AD |
LARS2 | ?hydrops, lactic acidosis, and sideroblastic anemia | AR |
LARS2 | perrault syndrome 4 | AR |
OTOF | auditory neuropathy, autosomal recessive, 1 | AR |
OTOF | deafness, autosomal recessive 9 | AR |
HOMER2 | ?deafness, autosomal dominant 68 | AD |
ANKH | chondrocalcinosis 2 | AD |
ANKH | craniometaphyseal dysplasia | AD |
S1PR2 | deafness, autosomal recessive 68 | AR |
OPA1 | ?mitochondrial dna depletion syndrome 14 (encephalocardiomyopathic type) | |
OPA1 | {glaucoma, normal tension, susceptibility to} | |
OPA1 | behr syndrome | AR |
OPA1 | optic atrophy 1 | AD |
OPA1 | optic atrophy plus syndrome | AD |
SLC26A5 | ?deafness, autosomal recessive 61 | AR |
DIABLO | deafness, autosomal dominant 64 | AD |
USH1C | deafness, autosomal recessive 18a | AR |
USH1C | usher syndrome, type 1c | AR |
CIB2 | deafness, autosomal recessive 48 | AR |
CIB2 | usher syndrome, type ij | AR |
TMPRSS3 | deafness, autosomal recessive 8/10 | AR |
PCDH15 | deafness, autosomal recessive 23 | AR |
PCDH15 | usher syndrome, type 1d/f digenic | AR, DR |
PCDH15 | usher syndrome, type 1f | AR |
CDH23 | {pituitary adenoma 5, multiple types} | AD |
CDH23 | deafness, autosomal recessive 12 | AR |
CDH23 | usher syndrome, type 1d | AR, DR |
CDH23 | usher syndrome, type 1d/f digenic | AR, DR |
CLDN14 | deafness, autosomal recessive 29 | AR |
SLC26A4 | deafness, autosomal recessive 4, with enlarged vestibular aqueduct | AR |
SLC26A4 | pendred syndrome | AR |
TWNK | mitochondrial dna depletion syndrome 7 (hepatocerebral type) | AR |
TWNK | perrault syndrome 5 | AR |
TWNK | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 | AD |
WFS1 | ?cataract 41 | AD |
WFS1 | {diabetes mellitus, noninsulin-dependent, association with} | AD |
WFS1 | deafness, autosomal dominant 6/14/38 | AD |
WFS1 | wolfram syndrome 1 | AR |
WFS1 | wolfram-like syndrome, autosomal dominant | AD |
DCDC2 | ?deafness, autosomal recessive 66 | AR |
DCDC2 | nephronophthisis 19 | AR |
DCDC2 | sclerosing cholangitis, neonatal | AR |
BSND | bartter syndrome, type 4a | AR |
BSND | sensorineural deafness with mild renal dysfunction | AR |
CLRN1 | retinitis pigmentosa 61 | |
CLRN1 | usher syndrome, type 3a | AR |
STRC | deafness, autosomal recessive 16 | AR |
ESPN | ?usher syndrome, type 1m | AR |
ESPN | deafness, autosomal recessive 36 | AR |
ESPN | deafness, neurosensory, without vestibular involvement, autosomal dominant | AR |
TMC1 | deafness, autosomal dominant 36 | AD |
TMC1 | deafness, autosomal recessive 7 | AR |
OSBPL2 | deafness, autosomal dominant 67 | AD |
MYO3A | deafness, autosomal recessive 30 | AR |
ALMS1 | alstrom syndrome | AR |
BDP1 | ?deafness, autosomal recessive 112 | AR |
OTOA | deafness, autosomal recessive 22 | AR |
NLRP3 | cinca syndrome | AD |
NLRP3 | deafness, autosomal dominant 34, with or without inflammation | AD |
NLRP3 | familial cold inflammatory syndrome 1 | AD |
NLRP3 | keratoendothelitis fugax hereditaria | AD |
NLRP3 | muckle-wells syndrome | AD |
TYR | [skin/hair/eye pigmentation 3, blue/green eyes] | AD |
TYR | [skin/hair/eye pigmentation 3, light/dark/freckling skin] | AD |
TYR | {melanoma, cutaneous malignant, susceptibility to, 8} | AD |
TYR | albinism, oculocutaneous, type ia | AR |
TYR | albinism, oculocutaneous, type ib | |
TYR | waardenburg syndrome/albinism, digenic | |
TMIE | deafness, autosomal recessive 6 | AR |
TCOF1 | treacher collins syndrome 1 | AD |
CLIC5 | ?deafness, autosomal recessive 103 | AR |
CABP2 | deafness, autosomal recessive 93 | AR |
PAX3 | craniofacial-deafness-hand syndrome | AD |
PAX3 | rhabdomyosarcoma 2, alveolar | SMu |
PAX3 | waardenburg syndrome, type 1 | AD |
PAX3 | waardenburg syndrome, type 3 | AD, AR |
SLC17A8 | deafness, autosomal dominant 25 | AD |
USH1G | usher syndrome, type 1g | AR |
SLC52A2 | brown-vialetto-van laere syndrome 2 | AR |
TJP2 | cholestasis, progressive familial intrahepatic 4 | AR |
TJP2 | hypercholanemia, familial | AR |
WHRN | deafness, autosomal recessive 31 | AR |
WHRN | usher syndrome, type 2d | AR |
NF2 | meningioma, nf2-related, somatic | |
NF2 | neurofibromatosis, type 2 | AD |
NF2 | schwannomatosis, somatic | |
SEMA3E | ?charge syndrome | AD |
CHSY1 | temtamy preaxial brachydactyly syndrome | AR |
USH2A | retinitis pigmentosa 39 | |
USH2A | usher syndrome, type 2a | AR |
GRHL2 | corneal dystrophy, posterior polymorphous, 4 | AD |
GRHL2 | deafness, autosomal dominant 28 | AD |
GRHL2 | ectodermal dysplasia/short stature syndrome | AR |
MYH14 | ?peripheral neuropathy, myopathy, hoarseness, and hearing loss | AD |
MYH14 | deafness, autosomal dominant 4a | AD |
GIPC3 | deafness, autosomal recessive 15 | AR |
GSDME | deafness, autosomal dominant 5 | AD |
CHD7 | charge syndrome | AD |
CHD7 | hypogonadotropic hypogonadism 5 with or without anosmia | AD |
BTD | biotinidase deficiency | AR |
GPSM2 | chudley-mccullough syndrome | AR |
KCNQ1 | {long qt syndrome 1, acquired, susceptibility to} | AD |
KCNQ1 | atrial fibrillation, familial, 3 | AD |
KCNQ1 | jervell and lange-nielsen syndrome | AR |
KCNQ1 | long qt syndrome 1 | AD |
KCNQ1 | short qt syndrome 2 | AD |
LHFPL5 | deafness, autosomal recessive 67 | AR |
MANBA | mannosidosis, beta | AR |
SLITRK6 | deafness and myopia | AR |
ILDR1 | deafness, autosomal recessive 42 | AR |
POLR1C | leukodystrophy, hypomyelinating, 11 | AR |
POLR1C | treacher collins syndrome 3 | AR |
TRIOBP | deafness, autosomal recessive 28 | AR |
SLC4A11 | corneal dystrophy, fuchs endothelial, 4 | |
SLC4A11 | corneal endothelial dystrophy and perceptive deafness | AR |
SLC4A11 | corneal endothelial dystrophy, autosomal recessive | AR |
PJVK | deafness, autosomal recessive 59 | AR |
PNPT1 | combined oxidative phosphorylation deficiency 13 | AR |
PNPT1 | deafness, autosomal recessive 70 | AR |
MARVELD2 | deafness, autosomal recessive 49 | AR |
CCDC50 | ?deafness, autosomal dominant 44 | AD |
CISD2 | wolfram syndrome 2 | AR |
MIR96 | deafness, autosomal dominant 50 | AD |
LRTOMT | deafness, autosomal recessive 63 | AR |
NARS2 | ?deafness, autosomal recessive 94 | AR |
NARS2 | combined oxidative phosphorylation deficiency 24 | AR |
TSPEAR | ?deafness, autosomal recessive 98 | AR |
TSPEAR | ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | AR |
PDZD7 | {retinal disease in usher syndrome type iia, modifier of} | AR |
PDZD7 | deafness, autosomal recessive 57 | AR |
PDZD7 | usher syndrome, type iic, gpr98/pdzd7 digenic | AR, DD |
LOXHD1 | deafness, autosomal recessive 77 | AR |
GRXCR1 | deafness, autosomal recessive 25 | AR |
TPRN | deafness, autosomal recessive 79 | AR |
SLC52A3 | ?fazio-londe disease | AR |
SLC52A3 | brown-vialetto-van laere syndrome 1 | AR |
ASAH1 | farber lipogranulomatosis | AR |
ASAH1 | spinal muscular atrophy with progressive myoclonic epilepsy | AR |
ABHD12 | polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
TBC1D24 | deafness , autosomal recessive 86 | AR |
TBC1D24 | deafness, autosomal dominant 65 | AD |
TBC1D24 | doors syndrome | AR |
TBC1D24 | epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | AR |
TBC1D24 | epileptic encephalopathy, early infantile, 16 | AR |
TBC1D24 | myoclonic epilepsy, infantile, familial | AR |
MSRB3 | deafness, autosomal recessive 74 | AR |
POLR1D | treacher collins syndrome 2 | AD, AR |
CEACAM16 | deafness, autosomal dominant 4b | AD |
CEACAM16 | deafness, autosomal recessive 113 | AR |
DIAPH3 | auditory neuropathy, autosomal dominant, 1 | AD |
OTOGL | deafness, autosomal recessive 84b | AR |
SYNE4 | deafness, autosomal recessive 76 | AR |
ELMOD3 | ?deafness, autosomal recessive 88 | AR |
GRXCR2 | ?deafness, autosomal recessive 101 | AR |
TMEM132E | ?deafness, autosomal recessive 99 | AR |
CEP78 | cone-rod dystrophy and hearing loss | AR |
CATSPER2 | DEAFNESS-INFERTILITY SYNDROME | |
CRYL1 | ||
HARS | Charcot-Marie-Tooth disease, axonal, type 2W | AD |
HARS | Usher syndrome type 3B | AR |
KARS | ?Charcot-Marie-Tooth disease, recessive intermediate, B | AR |
KARS | Deafness, autosomal recessive 89 | AR |
MYO1C | ||
RIPOR2 | ?Deafness, autosomal recessive 104 | AR |
TMPRSS5 | sporadic hearing loss |
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