Human Phenotype Ontology 
Grandparent Node:
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Hearing abnormality (HP:0000364)help
Parent Node:
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Functional abnormality of the inner ear (HP:0011389)help
Parent Node:
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Hearing impairment (HP:0000365)help
..Starting node
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Sensorineural hearing impairment (HP:0000407)help
Term ID: 407
Name: Sensorineural hearing impairment
Synonym: Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss
Definition: A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Comments:
Reference: HP:0000407
Genes and Diseases:
 
       Child Nodes:
........expandProgressive sensorineural hearing impairment (HP:0000408) help
........expandMixed hearing impairment (HP:0000410) help
........expandHigh-frequency sensorineural hearing impairment (HP:0001757) help
........expandModerate sensorineural hearing impairment (HP:0008504) help
........expandCongenital sensorineural hearing impairment (HP:0008527) help
........expandLow-frequency sensorineural hearing impairment (HP:0008573) help
........expandMild neurosensory hearing impairment (HP:0008587) help
........expandAdult onset sensorineural hearing impairment (HP:0008615) help
........expandBilateral sensorineural hearing impairment (HP:0008619) help
........expandSevere sensorineural hearing impairment (HP:0008625) help
........expandChildhood onset sensorineural hearing impairment (HP:0011474) help
................... HP:0000399 Prelingual sensorineural hearing impairment
................... HP:0008596 Postlingual sensorineural hearing impairment
................... HP:0008610 Infantile sensorineural hearing impairment
........expandProfound sensorineural hearing impairment (HP:0011476) help
........expandOld-aged sensorineural hearing impairment (HP:0040113) help

 Sister Nodes: 
..expandAminoglycoside-induced hearing loss (HP:0011975) help
..expandConductive hearing impairment (HP:0000405) help
..expandHigh-frequency hearing impairment (HP:0005101) help
..expandLow-frequency hearing loss (HP:0008542) help
..expandMid-frequency hearing loss (HP:0012781) help
..expandMild hearing impairment (HP:0012712) help
..expandModerate hearing impairment (HP:0012713) help
..expandProfound hearing impairment (HP:0012715) help
..expandProgressive hearing impairment (HP:0001730) help
..expandSevere hearing impairment (HP:0012714) help
..expandTransient hearing impairment (HP:0012779) help
..expandUnilateral deafness (HP:0009900) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000407HP:0000407Sensorineural hearing impairment0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0000407HP:0000407Sensorineural hearing impairment0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0000407HP:0000407Sensorineural hearing impairment0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0000407HP:0000407Sensorineural hearing impairment0ABCC1 CL E G H436351OMIM:618915DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA7722
HP:0000407HP:0000407Sensorineural hearing impairment0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0000407HP:0000407Sensorineural hearing impairment0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional254
HP:0000407HP:0000407Sensorineural hearing impairment0ABCD1 CL E G H21561ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional135
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0000407HP:0000407Sensorineural hearing impairment0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0000407HP:0000407Sensorineural hearing impairment0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0000407HP:0000407Sensorineural hearing impairment0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0000407HP:0000407Sensorineural hearing impairment0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0000407HP:0000407Sensorineural hearing impairment0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0000407HP:0000407Sensorineural hearing impairment0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional208
HP:0000407HP:0000407Sensorineural hearing impairment0ACTG1 CL E G H71144OMIM:604717Deafness, autosomal dominant 20123
HP:0000407HP:0000407Sensorineural hearing impairment0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional307
HP:0000407HP:0000407Sensorineural hearing impairment0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0000407HP:0000407Sensorineural hearing impairment0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0000407HP:0000407Sensorineural hearing impairment0ACY1 CL E G H95177ORPHA:137754Neurological conditions associated with aminoacylase 1 deficiencyHP:0040284 - Very rare13
HP:0000407HP:0000407Sensorineural hearing impairment0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000407HP:0000407Sensorineural hearing impairment0ADCY1 CL E G H107232OMIM:610154Deafness, autosomal recessive 442
HP:0000407HP:0000407Sensorineural hearing impairment0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent530
HP:0000407HP:0000407Sensorineural hearing impairment0ADGRV1 CL E G H8405917416OMIM:605472Usher syndrome, type IIC530
HP:0000407HP:0000407Sensorineural hearing impairment0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiencyHP:0040283 - Occasional26
HP:0000407HP:0000407Sensorineural hearing impairment0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000407HP:0000407Sensorineural hearing impairment0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000407HP:0000407Sensorineural hearing impairment0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000407HP:0000407Sensorineural hearing impairment0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare127
HP:0000407HP:0000407Sensorineural hearing impairment0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0000407HP:0000407Sensorineural hearing impairment0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000407HP:0000407Sensorineural hearing impairment0AIFM1 CL E G H91318768OMIM:310490Cowchock syndromeHP:0040283 - Occasional60
HP:0000407HP:0000407Sensorineural hearing impairment0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional89
HP:0000407HP:0000407Sensorineural hearing impairment0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type IpHP:0040283 - Occasional41
HP:0000407HP:0000407Sensorineural hearing impairment0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000407HP:0000407Sensorineural hearing impairment0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0000407HP:0000407Sensorineural hearing impairment0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000407HP:0000407Sensorineural hearing impairment0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000407HP:0000407Sensorineural hearing impairment0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0000407HP:0000407Sensorineural hearing impairment0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000407HP:0000407Sensorineural hearing impairment0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040283 - Occasional164
HP:0000407HP:0000407Sensorineural hearing impairment0ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant164
HP:0000407HP:0000407Sensorineural hearing impairment0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional95
HP:0000407HP:0000407Sensorineural hearing impairment0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0000407HP:0000407Sensorineural hearing impairment0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0000407HP:0000407Sensorineural hearing impairment0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0000407HP:0000407Sensorineural hearing impairment0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0000407HP:0000407Sensorineural hearing impairment0AP3D1 CL E G H8943568ORPHA:1000Ocular albinism with late-onset sensorineural deafnessHP:0040281 - Very frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0ARHGDIA CL E G H396678OMIM:615244Nephrotic syndrome, type 8.3
HP:0000407HP:0000407Sensorineural hearing impairment0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0000407HP:0000407Sensorineural hearing impairment0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040281 - Very frequent219
HP:0000407HP:0000407Sensorineural hearing impairment0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000407HP:0000407Sensorineural hearing impairment0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0000407HP:0000407Sensorineural hearing impairment0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0000407HP:0000407Sensorineural hearing impairment0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0000407HP:0000407Sensorineural hearing impairment0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0000407HP:0000407Sensorineural hearing impairment0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000407HP:0000407Sensorineural hearing impairment0ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0000407HP:0000407Sensorineural hearing impairment0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0000407HP:0000407Sensorineural hearing impairment0ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0000407HP:0000407Sensorineural hearing impairment0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040283 - Occasional78
HP:0000407HP:0000407Sensorineural hearing impairment0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040283 - Occasional15
HP:0000407HP:0000407Sensorineural hearing impairment0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000407HP:0000407Sensorineural hearing impairment0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000407HP:0000407Sensorineural hearing impairment0ATP11A CL E G H2325013552OMIM:619810DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.150
HP:0000407HP:0000407Sensorineural hearing impairment0ATP1A3 CL E G H478801ORPHA:1171Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeHP:0040281 - Very frequent150
HP:0000407HP:0000407Sensorineural hearing impairment0ATP2B2 CL E G H491815OMIM:619804DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA825
HP:0000407HP:0000407Sensorineural hearing impairment0ATP2B2 CL E G H491815OMIM:601386Deafness, autosomal recessive 125
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V0A4 CL E G H50617866OMIM:602722RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR64
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B1 CL E G H525853OMIM:267300Renal tubular acidosis, distal, with progressive nerve deafness.67
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndrome5
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant.5
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare5
HP:0000407HP:0000407Sensorineural hearing impairment0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2.5
HP:0000407HP:0000407Sensorineural hearing impairment0ATP7A CL E G H538869ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional192
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0000407HP:0000407Sensorineural hearing impairment0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000407HP:0000407Sensorineural hearing impairment0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0000407HP:0000407Sensorineural hearing impairment0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional204
HP:0000407HP:0000407Sensorineural hearing impairment0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0000407HP:0000407Sensorineural hearing impairment0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0000407HP:0000407Sensorineural hearing impairment0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0000407HP:0000407Sensorineural hearing impairment0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0000407HP:0000407Sensorineural hearing impairment0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0000407HP:0000407Sensorineural hearing impairment0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H6171020ORPHA:123Björnstad syndromeHP:0040281 - Very frequent72
HP:0000407HP:0000407Sensorineural hearing impairment0BCS1L CL E G H6171020OMIM:262000Bjornstad syndrome.72
HP:0000407HP:0000407Sensorineural hearing impairment0BDP1 CL E G H5581413652OMIM:618257Deafness, autosomal recessive 1122
HP:0000407HP:0000407Sensorineural hearing impairment0BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 31HP:0040283 - Occasional1
HP:0000407HP:0000407Sensorineural hearing impairment0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0000407HP:0000407Sensorineural hearing impairment0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000407HP:0000407Sensorineural hearing impairment0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000407HP:0000407Sensorineural hearing impairment0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent276
HP:0000407HP:0000407Sensorineural hearing impairment0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0000407HP:0000407Sensorineural hearing impairment0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafness53
HP:0000407HP:0000407Sensorineural hearing impairment0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040282 - Frequent223
HP:0000407HP:0000407Sensorineural hearing impairment0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0000407HP:0000407Sensorineural hearing impairment0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040282 - Frequent109
HP:0000407HP:0000407Sensorineural hearing impairment0BTRC CL E G H89451144ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional2
HP:0000407HP:0000407Sensorineural hearing impairment0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33HP:0040284 - Very rare
HP:0000407HP:0000407Sensorineural hearing impairment0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron disease56
HP:0000407HP:0000407Sensorineural hearing impairment0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0000407HP:0000407Sensorineural hearing impairment0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0000407HP:0000407Sensorineural hearing impairment0CASK CL E G H85731497OMIM:300422FG SYNDROME 4; FGS4118
HP:0000407HP:0000407Sensorineural hearing impairment0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000407HP:0000407Sensorineural hearing impairment0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000407HP:0000407Sensorineural hearing impairment0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0000407HP:0000407Sensorineural hearing impairment0CAT CL E G H8471516ORPHA:926Acatalasemia5
HP:0000407HP:0000407Sensorineural hearing impairment0CATSPER2 CL E G H11715518810OMIM:611102Deafness, sensorineural, and male infertility12
HP:0000407HP:0000407Sensorineural hearing impairment0CATSPER2 CL E G H11715518810ORPHA:94064Deafness-infertility syndromeHP:0040281 - Very frequent12
HP:0000407HP:0000407Sensorineural hearing impairment0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040283 - Occasional317
HP:0000407HP:0000407Sensorineural hearing impairment0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000407HP:0000407Sensorineural hearing impairment0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0CCDC50 CL E G H15213718111OMIM:607453DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA4435
HP:0000407HP:0000407Sensorineural hearing impairment0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0000407HP:0000407Sensorineural hearing impairment0CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopenia
HP:0000407HP:0000407Sensorineural hearing impairment0CD151 CL E G H9771630OMIM:609057NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS1
HP:0000407HP:0000407Sensorineural hearing impairment0CD164 CL E G H87631632OMIM:616969DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA661
HP:0000407HP:0000407Sensorineural hearing impairment0CDC14A CL E G H85561718OMIM:608653Deafness, autosomal recessive 32, with or without immotile sperm2
HP:0000407HP:0000407Sensorineural hearing impairment0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000407HP:0000407Sensorineural hearing impairment0CDC42BPB CL E G H95781738OMIM:619841
HP:0000407HP:0000407Sensorineural hearing impairment0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0000407HP:0000407Sensorineural hearing impairment0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000407HP:0000407Sensorineural hearing impairment0CDH23 CL E G H6407213733OMIM:601386Deafness, autosomal recessive 12636
HP:0000407HP:0000407Sensorineural hearing impairment0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent636
HP:0000407HP:0000407Sensorineural hearing impairment0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0000407HP:0000407Sensorineural hearing impairment0CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessiveHP:0040283 - Occasional181
HP:0000407HP:0000407Sensorineural hearing impairment0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000407HP:0000407Sensorineural hearing impairment0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000407HP:0000407Sensorineural hearing impairment0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0000407HP:0000407Sensorineural hearing impairment0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000407HP:0000407Sensorineural hearing impairment0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000407HP:0000407Sensorineural hearing impairment0CEACAM16 CL E G H38855131948OMIM:618410DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB11330
HP:0000407HP:0000407Sensorineural hearing impairment0CEP250 CL E G H111901859OMIM:618358CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H8413125740OMIM:617236CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL9
HP:0000407HP:0000407Sensorineural hearing impairment0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent9
HP:0000407HP:0000407Sensorineural hearing impairment0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0000407HP:0000407Sensorineural hearing impairment0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000407HP:0000407Sensorineural hearing impairment0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare65
HP:0000407HP:0000407Sensorineural hearing impairment0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2HP:0040283 - Occasional11
HP:0000407HP:0000407Sensorineural hearing impairment0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron disease11
HP:0000407HP:0000407Sensorineural hearing impairment0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000407HP:0000407Sensorineural hearing impairment0CHD7 CL E G H5563620626OMIM:612370Hypogonadotropic hypogonadism 5 with or without anosmia.515
HP:0000407HP:0000407Sensorineural hearing impairment0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0000407HP:0000407Sensorineural hearing impairment0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0000407HP:0000407Sensorineural hearing impairment0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040282 - Frequent35
HP:0000407HP:0000407Sensorineural hearing impairment0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0000407HP:0000407Sensorineural hearing impairment0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0000407HP:0000407Sensorineural hearing impairment0CIB2 CL E G H1051824579OMIM:609439Deafness, autosomal recessive 4815
HP:0000407HP:0000407Sensorineural hearing impairment0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent15
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040281 - Very frequent3
HP:0000407HP:0000407Sensorineural hearing impairment0CISD2 CL E G H49385624212OMIM:604928Wolfram syndrome 23
HP:0000407HP:0000407Sensorineural hearing impairment0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafness9
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0000407HP:0000407Sensorineural hearing impairment0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafness27
HP:0000407HP:0000407Sensorineural hearing impairment0CLDN14 CL E G H235622035OMIM:614035Deafness, autosomal recessive 29.57
HP:0000407HP:0000407Sensorineural hearing impairment0CLDN9 CL E G H90802051OMIM:619093DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000407HP:0000407Sensorineural hearing impairment0CLIC5 CL E G H5340513517OMIM:616042Deafness, autosomal recessive 103.1
HP:0000407HP:0000407Sensorineural hearing impairment0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0CLPP CL E G H81922084OMIM:614129Perrault syndrome 3.13
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent60
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN1 CL E G H740112605OMIM:276902Usher syndrome, type IIIAHP:0040282 - Frequent60
HP:0000407HP:0000407Sensorineural hearing impairment0CLRN2 CL E G H64510433939OMIM:619174DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000407HP:0000407Sensorineural hearing impairment0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000407HP:0000407Sensorineural hearing impairment0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0000407HP:0000407Sensorineural hearing impairment0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0000407HP:0000407Sensorineural hearing impairment0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0000407HP:0000407Sensorineural hearing impairment0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000407HP:0000407Sensorineural hearing impairment0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0000407HP:0000407Sensorineural hearing impairment0COCH CL E G H16902180OMIM:601369Deafness, autosomal dominant 946
HP:0000407HP:0000407Sensorineural hearing impairment0COCH CL E G H16902180OMIM:618094Deafness, autosomal recessive 110.46
HP:0000407HP:0000407Sensorineural hearing impairment0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040282 - Frequent215
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent215
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H13012186OMIM:618533DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37215
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040281 - Very frequent215
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H13012186ORPHA:90654Stickler syndrome type 2HP:0040281 - Very frequent215
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040281 - Very frequent222
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13022187OMIM:601868Deafness, autosomal dominant nonsyndromic sensorineural 13.HP:0003577 - Congenital onset222
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13022187OMIM:609706Deafness, autosomal recessive 53.222
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040281 - Very frequent222
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222
HP:0000407HP:0000407Sensorineural hearing impairment0COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III.222
HP:0000407HP:0000407Sensorineural hearing impairment0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare6
HP:0000407HP:0000407Sensorineural hearing impairment0COL27A1 CL E G H8530122986OMIM:615155Steel syndromeHP:0040284 - Very rare1
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040281 - Very frequent284
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1HP:0040282 - Frequent284
HP:0000407HP:0000407Sensorineural hearing impairment0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant.161
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent678
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A6 CL E G H12882208OMIM:300914Deafness, X-linked 618
HP:0000407HP:0000407Sensorineural hearing impairment0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent18
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent110
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A1 CL E G H12972217OMIM:614134STICKLER SYNDROME, TYPE IV; STL4110
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent110
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A2 CL E G H12982218OMIM:614284Stickler syndrome, type V.110
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A3 CL E G H12992219OMIM:620022137
HP:0000407HP:0000407Sensorineural hearing impairment0COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent137
HP:0000407HP:0000407Sensorineural hearing impairment0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0000407HP:0000407Sensorineural hearing impairment0COQ6 CL E G H5100420233OMIM:614650Coenzyme Q10 deficiency, primary, 6.39
HP:0000407HP:0000407Sensorineural hearing impairment0COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000407HP:0000407Sensorineural hearing impairment0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0000407HP:0000407Sensorineural hearing impairment0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000407HP:0000407Sensorineural hearing impairment0COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000407HP:0000407Sensorineural hearing impairment0COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000407HP:0000407Sensorineural hearing impairment0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000407HP:0000407Sensorineural hearing impairment0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0000407HP:0000407Sensorineural hearing impairment0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000407HP:0000407Sensorineural hearing impairment0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0000407HP:0000407Sensorineural hearing impairment0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0000407HP:0000407Sensorineural hearing impairment0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional46
HP:0000407HP:0000407Sensorineural hearing impairment0CRYM CL E G H14282418OMIM:616357DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA4015
HP:0000407HP:0000407Sensorineural hearing impairment0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21HP:0040283 - Occasional57
HP:0000407HP:0000407Sensorineural hearing impairment0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional104
HP:0000407HP:0000407Sensorineural hearing impairment0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000407HP:0000407Sensorineural hearing impairment0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0000407HP:0000407Sensorineural hearing impairment0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040284 - Very rare57
HP:0000407HP:0000407Sensorineural hearing impairment0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessiveHP:0040283 - Occasional57
HP:0000407HP:0000407Sensorineural hearing impairment0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000407HP:0000407Sensorineural hearing impairment0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0000407HP:0000407Sensorineural hearing impairment0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0000407HP:0000407Sensorineural hearing impairment0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0000407HP:0000407Sensorineural hearing impairment0DCC CL E G H16302701ORPHA:2744Horizontal gaze palsy with progressive scoliosisHP:0040283 - Occasional36
HP:0000407HP:0000407Sensorineural hearing impairment0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0000407HP:0000407Sensorineural hearing impairment0DCDC2 CL E G H5147318141OMIM:610212Deafness, autosomal recessive 66.8
HP:0000407HP:0000407Sensorineural hearing impairment0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000407HP:0000407Sensorineural hearing impairment0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0000407HP:0000407Sensorineural hearing impairment0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional263
HP:0000407HP:0000407Sensorineural hearing impairment0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0000407HP:0000407Sensorineural hearing impairment0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0000407HP:0000407Sensorineural hearing impairment0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000407HP:0000407Sensorineural hearing impairment0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000407HP:0000407Sensorineural hearing impairment0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 59.47
HP:0000407HP:0000407Sensorineural hearing impairment0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000407HP:0000407Sensorineural hearing impairment0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0DIABLO CL E G H5661621528OMIM:614152Deafness, autosomal dominant 64.11
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH1 CL E G H17292876OMIM:124900Deafness, autosomal dominant 1.118
HP:0000407HP:0000407Sensorineural hearing impairment0DIAPH3 CL E G H8162415480OMIM:609129Auditory neuropathy, autosomal dominant, 1.8
HP:0000407HP:0000407Sensorineural hearing impairment0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000407HP:0000407Sensorineural hearing impairment0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0000407HP:0000407Sensorineural hearing impairment0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000407HP:0000407Sensorineural hearing impairment0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000407HP:0000407Sensorineural hearing impairment0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0000407HP:0000407Sensorineural hearing impairment0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000407HP:0000407Sensorineural hearing impairment0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0000407HP:0000407Sensorineural hearing impairment0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000407HP:0000407Sensorineural hearing impairment0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000407HP:0000407Sensorineural hearing impairment0DLX5 CL E G H17492918ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional3
HP:0000407HP:0000407Sensorineural hearing impairment0DLX5 CL E G H17492918OMIM:220600Split-Hand/foot malformation 1 with sensorineural hearing loss.3
HP:0000407HP:0000407Sensorineural hearing impairment0DLX6 CL E G H17502919ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1496
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent48
HP:0000407HP:0000407Sensorineural hearing impairment0DMP1 CL E G H17582932OMIM:241520Hypophosphatemic rickets, autosomal recessive.48
HP:0000407HP:0000407Sensorineural hearing impairment0DMXL2 CL E G H233122938OMIM:617605DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA713
HP:0000407HP:0000407Sensorineural hearing impairment0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0000407HP:0000407Sensorineural hearing impairment0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0000407HP:0000407Sensorineural hearing impairment0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.3
HP:0000407HP:0000407Sensorineural hearing impairment0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome3
HP:0000407HP:0000407Sensorineural hearing impairment0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040283 - Occasional3
HP:0000407HP:0000407Sensorineural hearing impairment0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040282 - Frequent94
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040281 - Very frequent145
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE.145
HP:0000407HP:0000407Sensorineural hearing impairment0DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent79
HP:0000407HP:0000407Sensorineural hearing impairment0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional55
HP:0000407HP:0000407Sensorineural hearing impairment0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional358
HP:0000407HP:0000407Sensorineural hearing impairment0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional747
HP:0000407HP:0000407Sensorineural hearing impairment0DSPP CL E G H18343054OMIM:605594Deafness, autosomal dominant 39, with dentinogenesis imperfecta 138
HP:0000407HP:0000407Sensorineural hearing impairment0DTYMK CL E G H18413061OMIM:619847
HP:0000407HP:0000407Sensorineural hearing impairment0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040284 - Very rare121
HP:0000407HP:0000407Sensorineural hearing impairment0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040284 - Very rare11
HP:0000407HP:0000407Sensorineural hearing impairment0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0000407HP:0000407Sensorineural hearing impairment0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0000407HP:0000407Sensorineural hearing impairment0DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2HP:0040283 - Occasional14
HP:0000407HP:0000407Sensorineural hearing impairment0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctataHP:0040283 - Occasional51
HP:0000407HP:0000407Sensorineural hearing impairment0ECE1 CL E G H18893146ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional13
HP:0000407HP:0000407Sensorineural hearing impairment0EDC3 CL E G H8015326114OMIM:616460Mental retardation, autosomal recessive 50HP:0040283 - Occasional1
HP:0000407HP:0000407Sensorineural hearing impairment0EDN3 CL E G H19083178ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional67
HP:0000407HP:0000407Sensorineural hearing impairment0EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B.67
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H19103180ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional55
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent55
HP:0000407HP:0000407Sensorineural hearing impairment0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0000407HP:0000407Sensorineural hearing impairment0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0000407HP:0000407Sensorineural hearing impairment0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67HP:0040284 - Very rare
HP:0000407HP:0000407Sensorineural hearing impairment0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040283 - Occasional3
HP:0000407HP:0000407Sensorineural hearing impairment0ELMOD3 CL E G H8417326158OMIM:619500DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA811
HP:0000407HP:0000407Sensorineural hearing impairment0ELMOD3 CL E G H8417326158OMIM:615429DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB881
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000407HP:0000407Sensorineural hearing impairment0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000407HP:0000407Sensorineural hearing impairment0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000407HP:0000407Sensorineural hearing impairment0ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent151
HP:0000407HP:0000407Sensorineural hearing impairment0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0000407HP:0000407Sensorineural hearing impairment0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0000407HP:0000407Sensorineural hearing impairment0EPG5 CL E G H5772429331OMIM:242840Vici syndromeHP:0040283 - Occasional40
HP:0000407HP:0000407Sensorineural hearing impairment0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040283 - Occasional40
HP:0000407HP:0000407Sensorineural hearing impairment0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15HP:0040284 - Very rare
HP:0000407HP:0000407Sensorineural hearing impairment0EPS15L1 CL E G H5851324634ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0ERAL1 CL E G H262843424OMIM:617565PERRAULT SYNDROME 6; PRLTS61
HP:0000407HP:0000407Sensorineural hearing impairment0ERBB2 CL E G H20643430ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional77
HP:0000407HP:0000407Sensorineural hearing impairment0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0000407HP:0000407Sensorineural hearing impairment0ERBB3 CL E G H20653431ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional12
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040282 - Frequent20
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040282 - Frequent106
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040282 - Frequent83
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040282 - Frequent199
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000407HP:0000407Sensorineural hearing impairment0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0000407HP:0000407Sensorineural hearing impairment0ESPN CL E G H8371513281OMIM:609006Deafness, autosomal recessive 36, with or without vestibular involvement.HP:0003593 - Infantile onset33
HP:0000407HP:0000407Sensorineural hearing impairment0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent33
HP:0000407HP:0000407Sensorineural hearing impairment0ESPN CL E G H8371513281OMIM:618632USHER SYNDROME, TYPE 1M; USH1M33
HP:0000407HP:0000407Sensorineural hearing impairment0ESRP1 CL E G H5484525966OMIM:618013DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000407HP:0000407Sensorineural hearing impairment0ESRRB CL E G H21033473OMIM:608565DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB3578
HP:0000407HP:0000407Sensorineural hearing impairment0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H21383519ORPHA:52429Branchiootic syndromeHP:0040282 - Frequent135
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1.135
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000407HP:0000407Sensorineural hearing impairment0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome135
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H20703522OMIM:605362Cardiomyopathy, dilated, 1J111
HP:0000407HP:0000407Sensorineural hearing impairment0EYA4 CL E G H20703522OMIM:601316Deafness, autosomal dominant nonsyndromic sensorineural 10.111
HP:0000407HP:0000407Sensorineural hearing impairment0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0000407HP:0000407Sensorineural hearing impairment0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0000407HP:0000407Sensorineural hearing impairment0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0000407HP:0000407Sensorineural hearing impairment0FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:0000407HP:0000407Sensorineural hearing impairment0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional7
HP:0000407HP:0000407Sensorineural hearing impairment0FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040281 - Very frequent59
HP:0000407HP:0000407Sensorineural hearing impairment0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000407HP:0000407Sensorineural hearing impairment0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0000407HP:0000407Sensorineural hearing impairment0FBXW4 CL E G H646810847ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional37
HP:0000407HP:0000407Sensorineural hearing impairment0FBXW7 CL E G H5529416712OMIM:62001222
HP:0000407HP:0000407Sensorineural hearing impairment0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0000407HP:0000407Sensorineural hearing impairment0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0000407HP:0000407Sensorineural hearing impairment0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0000407HP:0000407Sensorineural hearing impairment0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0000407HP:0000407Sensorineural hearing impairment0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000407HP:0000407Sensorineural hearing impairment0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040281 - Very frequent18
HP:0000407HP:0000407Sensorineural hearing impairment0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia18
HP:0000407HP:0000407Sensorineural hearing impairment0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0000407HP:0000407Sensorineural hearing impairment0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000407HP:0000407Sensorineural hearing impairment0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia17
HP:0000407HP:0000407Sensorineural hearing impairment0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0000407HP:0000407Sensorineural hearing impairment0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0000407HP:0000407Sensorineural hearing impairment0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000407HP:0000407Sensorineural hearing impairment0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadism17
HP:0000407HP:0000407Sensorineural hearing impairment0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia.172
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadism172
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040283 - Occasional175
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome.145
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome.145
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040282 - Frequent145
HP:0000407HP:0000407Sensorineural hearing impairment0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0000407HP:0000407Sensorineural hearing impairment0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000407HP:0000407Sensorineural hearing impairment0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional36
HP:0000407HP:0000407Sensorineural hearing impairment0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040282 - Frequent2
HP:0000407HP:0000407Sensorineural hearing impairment0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndromeHP:0040283 - Occasional2
HP:0000407HP:0000407Sensorineural hearing impairment0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000407HP:0000407Sensorineural hearing impairment0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0000407HP:0000407Sensorineural hearing impairment0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0000407HP:0000407Sensorineural hearing impairment0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040281 - Very frequent13
HP:0000407HP:0000407Sensorineural hearing impairment0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional184
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000407HP:0000407Sensorineural hearing impairment0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0000407HP:0000407Sensorineural hearing impairment0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0000407HP:0000407Sensorineural hearing impairment0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0000407HP:0000407Sensorineural hearing impairment0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0000407HP:0000407Sensorineural hearing impairment0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000407HP:0000407Sensorineural hearing impairment0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0000407HP:0000407Sensorineural hearing impairment0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000407HP:0000407Sensorineural hearing impairment0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H22993815OMIM:600791Enlarged vestibular aqueduct.33
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H22993815ORPHA:705Pendred syndromeHP:0040281 - Very frequent33
HP:0000407HP:0000407Sensorineural hearing impairment0FOXI1 CL E G H22993815OMIM:274600Pendred syndrome33
HP:0000407HP:0000407Sensorineural hearing impairment0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0000407HP:0000407Sensorineural hearing impairment0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0000407HP:0000407Sensorineural hearing impairment0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0000407HP:0000407Sensorineural hearing impairment0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron disease105
HP:0000407HP:0000407Sensorineural hearing impairment0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0000407HP:0000407Sensorineural hearing impairment0GAB1 CL E G H25494066OMIM:605428Deafness, autosomal recessive 26.1
HP:0000407HP:0000407Sensorineural hearing impairment0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0000407HP:0000407Sensorineural hearing impairment0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0000407HP:0000407Sensorineural hearing impairment0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040284 - Very rare23
HP:0000407HP:0000407Sensorineural hearing impairment0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000407HP:0000407Sensorineural hearing impairment0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0000407HP:0000407Sensorineural hearing impairment0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000407HP:0000407Sensorineural hearing impairment0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000407HP:0000407Sensorineural hearing impairment0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040281 - Very frequent137
HP:0000407HP:0000407Sensorineural hearing impairment0GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia83
HP:0000407HP:0000407Sensorineural hearing impairment0GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndrome83
HP:0000407HP:0000407Sensorineural hearing impairment0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional35
HP:0000407HP:0000407Sensorineural hearing impairment0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040283 - Occasional30
HP:0000407HP:0000407Sensorineural hearing impairment0GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040282 - Frequent52
HP:0000407HP:0000407Sensorineural hearing impairment0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0000407HP:0000407Sensorineural hearing impairment0GDNF CL E G H26684232ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional59
HP:0000407HP:0000407Sensorineural hearing impairment0GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome14
HP:0000407HP:0000407Sensorineural hearing impairment0GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay14
HP:0000407HP:0000407Sensorineural hearing impairment0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000407HP:0000407Sensorineural hearing impairment0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000407HP:0000407Sensorineural hearing impairment0GIPC3 CL E G H12632618183OMIM:601869DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB1540
HP:0000407HP:0000407Sensorineural hearing impairment0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040283 - Occasional68
HP:0000407HP:0000407Sensorineural hearing impairment0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive68
HP:0000407HP:0000407Sensorineural hearing impairment0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000407HP:0000407Sensorineural hearing impairment0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000407HP:0000407Sensorineural hearing impairment0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1HP:0040283 - Occasional107
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27064284OMIM:601544Deafness, autosomal dominant nonsyndromic sensorineural 3.199
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27064284OMIM:220290Deafness, autosomal recessive 1A.199
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27064284OMIM:304400Deafness, X-linked 2199
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040281 - Very frequent199
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040281 - Very frequent199
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeHP:0040281 - Very frequent199
HP:0000407HP:0000407Sensorineural hearing impairment0GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndromeHP:0040281 - Very frequent199
HP:0000407HP:0000407Sensorineural hearing impairment0GJB3 CL E G H27074285OMIM:220290Deafness, autosomal recessive 1A.74
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H108044288OMIM:612643Deafness, autosomal dominant 3B56
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H108044288OMIM:220290Deafness, autosomal recessive 1A.56
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H108044288OMIM:304400Deafness, X-linked 256
HP:0000407HP:0000407Sensorineural hearing impairment0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040281 - Very frequent56
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 44HP:0040282 - Frequent37
HP:0000407HP:0000407Sensorineural hearing impairment0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessiveHP:0040282 - Frequent37
HP:0000407HP:0000407Sensorineural hearing impairment0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0000407HP:0000407Sensorineural hearing impairment0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000407HP:0000407Sensorineural hearing impairment0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0000407HP:0000407Sensorineural hearing impairment0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000407HP:0000407Sensorineural hearing impairment0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000407HP:0000407Sensorineural hearing impairment0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040283 - Occasional270
HP:0000407HP:0000407Sensorineural hearing impairment0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidismHP:0040283 - Occasional143
HP:0000407HP:0000407Sensorineural hearing impairment0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIAHP:0040283 - Occasional6
HP:0000407HP:0000407Sensorineural hearing impairment0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0000407HP:0000407Sensorineural hearing impairment0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0000407HP:0000407Sensorineural hearing impairment0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0000407HP:0000407Sensorineural hearing impairment0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000407HP:0000407Sensorineural hearing impairment0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040284 - Very rare240
HP:0000407HP:0000407Sensorineural hearing impairment0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadism15
HP:0000407HP:0000407Sensorineural hearing impairment0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadism92
HP:0000407HP:0000407Sensorineural hearing impairment0GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopenia23
HP:0000407HP:0000407Sensorineural hearing impairment0GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopenia8
HP:0000407HP:0000407Sensorineural hearing impairment0GPC4 CL E G H22394452OMIM:301026Keipert syndrome.
HP:0000407HP:0000407Sensorineural hearing impairment0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0000407HP:0000407Sensorineural hearing impairment0GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0000407HP:0000407Sensorineural hearing impairment0GRAP CL E G H107504562OMIM:618456Deafness, autosomal recessive 114
HP:0000407HP:0000407Sensorineural hearing impairment0GREB1L CL E G H8000031042OMIM:619274DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000407HP:0000407Sensorineural hearing impairment0GRHL2 CL E G H799772799OMIM:608641Deafness, autosomal dominant nonsyndromic sensorineural 28.33
HP:0000407HP:0000407Sensorineural hearing impairment0GRXCR1 CL E G H38920731673OMIM:613285Deafness, autosomal recessive 2536
HP:0000407HP:0000407Sensorineural hearing impairment0GRXCR2 CL E G H64322633862OMIM:615837Deafness, autosomal recessive 1013
HP:0000407HP:0000407Sensorineural hearing impairment0GSDME CL E G H16872810OMIM:600994Deafness, autosomal dominant nonsyndromic sensorineural 587
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0000407HP:0000407Sensorineural hearing impairment0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0000407HP:0000407Sensorineural hearing impairment0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0000407HP:0000407Sensorineural hearing impairment0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 1.2
HP:0000407HP:0000407Sensorineural hearing impairment0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0000407HP:0000407Sensorineural hearing impairment0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0000407HP:0000407Sensorineural hearing impairment0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional2
HP:0000407HP:0000407Sensorineural hearing impairment0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000407HP:0000407Sensorineural hearing impairment0HARS2 CL E G H234384817OMIM:614926PERRAULT SYNDROME 2; PRLTS229
HP:0000407HP:0000407Sensorineural hearing impairment0HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0000407HP:0000407Sensorineural hearing impairment0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndromeHP:0040283 - Occasional33
HP:0000407HP:0000407Sensorineural hearing impairment0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000407HP:0000407Sensorineural hearing impairment0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0000407HP:0000407Sensorineural hearing impairment0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0000407HP:0000407Sensorineural hearing impairment0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0000407HP:0000407Sensorineural hearing impairment0HGF CL E G H30824893OMIM:608265Deafness, congenital neurosensory, autosomal recessive 3939
HP:0000407HP:0000407Sensorineural hearing impairment0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0000407HP:0000407Sensorineural hearing impairment0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0000407HP:0000407Sensorineural hearing impairment0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000407HP:0000407Sensorineural hearing impairment0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000407HP:0000407Sensorineural hearing impairment0HOMER2 CL E G H945517513OMIM:616707DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA681
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040283 - Occasional3
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0000407HP:0000407Sensorineural hearing impairment0HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21
HP:0000407HP:0000407Sensorineural hearing impairment0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0000407HP:0000407Sensorineural hearing impairment0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000407HP:0000407Sensorineural hearing impairment0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0000407HP:0000407Sensorineural hearing impairment0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadism8
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0000407HP:0000407Sensorineural hearing impairment0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1.98
HP:0000407HP:0000407Sensorineural hearing impairment0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0000407HP:0000407Sensorineural hearing impairment0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIIIHP:0040283 - Occasional39
HP:0000407HP:0000407Sensorineural hearing impairment0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathyHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0000407HP:0000407Sensorineural hearing impairment0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000407HP:0000407Sensorineural hearing impairment0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000407HP:0000407Sensorineural hearing impairment0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000407HP:0000407Sensorineural hearing impairment0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0000407HP:0000407Sensorineural hearing impairment0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0000407HP:0000407Sensorineural hearing impairment0IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndromeHP:0040282 - Frequent115
HP:0000407HP:0000407Sensorineural hearing impairment0IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040283 - Occasional115
HP:0000407HP:0000407Sensorineural hearing impairment0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0000407HP:0000407Sensorineural hearing impairment0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000407HP:0000407Sensorineural hearing impairment0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040281 - Very frequent5
HP:0000407HP:0000407Sensorineural hearing impairment0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000407HP:0000407Sensorineural hearing impairment0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0000407HP:0000407Sensorineural hearing impairment0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0000407HP:0000407Sensorineural hearing impairment0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0000407HP:0000407Sensorineural hearing impairment0ILDR1 CL E G H28667628741OMIM:609646Deafness, neurosensory, autosomal recessive 42.42
HP:0000407HP:0000407Sensorineural hearing impairment0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0000407HP:0000407Sensorineural hearing impairment0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000407HP:0000407Sensorineural hearing impairment0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0000407HP:0000407Sensorineural hearing impairment0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0000407HP:0000407Sensorineural hearing impairment0ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopenia119
HP:0000407HP:0000407Sensorineural hearing impairment0ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopenia69
HP:0000407HP:0000407Sensorineural hearing impairment0ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopenia80
HP:0000407HP:0000407Sensorineural hearing impairment0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040284 - Very rare130
HP:0000407HP:0000407Sensorineural hearing impairment0JAG1 CL E G H1826188OMIM:617992DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE257
HP:0000407HP:0000407Sensorineural hearing impairment0KARS1 CL E G H37356215OMIM:619196DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000407HP:0000407Sensorineural hearing impairment0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000407HP:0000407Sensorineural hearing impairment0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0000407HP:0000407Sensorineural hearing impairment0KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndrome148
HP:0000407HP:0000407Sensorineural hearing impairment0KCNE1 CL E G H37536240OMIM:612347Jervell and lange-nielsen syndrome 2.HP:0003577 - Congenital onset148
HP:0000407HP:0000407Sensorineural hearing impairment0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare13
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040281 - Very frequent121
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H37666256OMIM:600791Enlarged vestibular aqueduct.121
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H37666256OMIM:274600Pendred syndrome121
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H37666256ORPHA:705Pendred syndromeHP:0040281 - Very frequent121
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0000407HP:0000407Sensorineural hearing impairment0KCNJ16 CL E G H37736262OMIM:619406HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000407HP:0000407Sensorineural hearing impairment0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare7
HP:0000407HP:0000407Sensorineural hearing impairment0KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndrome730
HP:0000407HP:0000407Sensorineural hearing impairment0KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1730
HP:0000407HP:0000407Sensorineural hearing impairment0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0000407HP:0000407Sensorineural hearing impairment0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000407HP:0000407Sensorineural hearing impairment0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040283 - Occasional167
HP:0000407HP:0000407Sensorineural hearing impairment0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000407HP:0000407Sensorineural hearing impairment0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadism14
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H42546343OMIM:6199479
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H42546343OMIM:616697DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA699
HP:0000407HP:0000407Sensorineural hearing impairment0KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent9
HP:0000407HP:0000407Sensorineural hearing impairment0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000407HP:0000407Sensorineural hearing impairment0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0000407HP:0000407Sensorineural hearing impairment0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0000407HP:0000407Sensorineural hearing impairment0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040283 - Occasional196
HP:0000407HP:0000407Sensorineural hearing impairment0KYNU CL E G H89426469ORPHA:79155Hydroxykynureninuria5
HP:0000407HP:0000407Sensorineural hearing impairment0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional279
HP:0000407HP:0000407Sensorineural hearing impairment0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1HP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0LARS2 CL E G H2339517095OMIM:615300Perrault syndrome 454
HP:0000407HP:0000407Sensorineural hearing impairment0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional286
HP:0000407HP:0000407Sensorineural hearing impairment0LETM1 CL E G H39546556OMIM:6200892
HP:0000407HP:0000407Sensorineural hearing impairment0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000407HP:0000407Sensorineural hearing impairment0LHFPL5 CL E G H22266221253OMIM:610265DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB6793
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism.51
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0000407HP:0000407Sensorineural hearing impairment0LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040281 - Very frequent51
HP:0000407HP:0000407Sensorineural hearing impairment0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0000407HP:0000407Sensorineural hearing impairment0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional645
HP:0000407HP:0000407Sensorineural hearing impairment0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0000407HP:0000407Sensorineural hearing impairment0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040284 - Very rare44
HP:0000407HP:0000407Sensorineural hearing impairment0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000407HP:0000407Sensorineural hearing impairment0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040282 - Frequent8
HP:0000407HP:0000407Sensorineural hearing impairment0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000407HP:0000407Sensorineural hearing impairment0LOXHD1 CL E G H12533626521OMIM:613079DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77278
HP:0000407HP:0000407Sensorineural hearing impairment0LOXL3 CL E G H8469513869ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent4
HP:0000407HP:0000407Sensorineural hearing impairment0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0000407HP:0000407Sensorineural hearing impairment0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0000407HP:0000407Sensorineural hearing impairment0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000407HP:0000407Sensorineural hearing impairment0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040281 - Very frequent289
HP:0000407HP:0000407Sensorineural hearing impairment0LRP4 CL E G H40386696ORPHA:3152SclerosteosisHP:0040282 - Frequent124
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H40416697ORPHA:2790Endosteal hyperostosis, Worth typeHP:0040283 - Occasional125
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H40416697ORPHA:3416Hyperostosis corticalis generalisataHP:0040282 - Frequent125
HP:0000407HP:0000407Sensorineural hearing impairment0LRP5 CL E G H40416697OMIM:144750Hyperostosis, endosteal.125
HP:0000407HP:0000407Sensorineural hearing impairment0LRTOMT CL E G H22007425033OMIM:611451Deafness, autosomal recessive 6378
HP:0000407HP:0000407Sensorineural hearing impairment0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040283 - Occasional43
HP:0000407HP:0000407Sensorineural hearing impairment0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000407HP:0000407Sensorineural hearing impairment0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome.21
HP:0000407HP:0000407Sensorineural hearing impairment0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040282 - Frequent63
HP:0000407HP:0000407Sensorineural hearing impairment0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0000407HP:0000407Sensorineural hearing impairment0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000407HP:0000407Sensorineural hearing impairment0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0000407HP:0000407Sensorineural hearing impairment0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000407HP:0000407Sensorineural hearing impairment0MAP1B CL E G H41316836OMIM:619808DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000407HP:0000407Sensorineural hearing impairment0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K20 CL E G H5177617797OMIM:616890Split-Foot malformation with mesoaxial polydactyly.2
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0000407HP:0000407Sensorineural hearing impairment0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0000407HP:0000407Sensorineural hearing impairment0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000407HP:0000407Sensorineural hearing impairment0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathy25
HP:0000407HP:0000407Sensorineural hearing impairment0MARVELD2 CL E G H15356226401OMIM:610153Deafness, autosomal recessive 4961
HP:0000407HP:0000407Sensorineural hearing impairment0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent22
HP:0000407HP:0000407Sensorineural hearing impairment0MCM2 CL E G H41716944OMIM:616968Deafness, autosomal dominant 701
HP:0000407HP:0000407Sensorineural hearing impairment0MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040283 - Occasional4
HP:0000407HP:0000407Sensorineural hearing impairment0MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0000407HP:0000407Sensorineural hearing impairment0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0000407HP:0000407Sensorineural hearing impairment0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000407HP:0000407Sensorineural hearing impairment0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2HP:0040283 - Occasional13
HP:0000407HP:0000407Sensorineural hearing impairment0MEOX1 CL E G H42227013OMIM:214300Klippel-Feil syndrome, autosomal recessive.5
HP:0000407HP:0000407Sensorineural hearing impairment0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0000407HP:0000407Sensorineural hearing impairment0MET CL E G H42337029OMIM:616705DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97375
HP:0000407HP:0000407Sensorineural hearing impairment0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040284 - Very rare203
HP:0000407HP:0000407Sensorineural hearing impairment0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0000407HP:0000407Sensorineural hearing impairment0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000407HP:0000407Sensorineural hearing impairment0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000407HP:0000407Sensorineural hearing impairment0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000407HP:0000407Sensorineural hearing impairment0MIR96 CL E G H40705331648OMIM:613074Deafness, autosomal dominant 504
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H42867105OMIM:103500Tietz syndrome91
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent91
HP:0000407HP:0000407Sensorineural hearing impairment0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0000407HP:0000407Sensorineural hearing impairment0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000407HP:0000407Sensorineural hearing impairment0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000407HP:0000407Sensorineural hearing impairment0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0000407HP:0000407Sensorineural hearing impairment0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0000407HP:0000407Sensorineural hearing impairment0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomaliesHP:0040284 - Very rare29
HP:0000407HP:0000407Sensorineural hearing impairment0MPEG1 CL E G H21997229619OMIM:619223IMMUNODEFICIENCY 77; IMD77
HP:0000407HP:0000407Sensorineural hearing impairment0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0000407HP:0000407Sensorineural hearing impairment0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J.134
HP:0000407HP:0000407Sensorineural hearing impairment0MPZL2 CL E G H102053496OMIM:618145Deafness, autosomal recessive 111
HP:0000407HP:0000407Sensorineural hearing impairment0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000407HP:0000407Sensorineural hearing impairment0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36.
HP:0000407HP:0000407Sensorineural hearing impairment0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000407HP:0000407Sensorineural hearing impairment0MTSS2 CL E G H9215425094OMIM:620086
HP:0000407HP:0000407Sensorineural hearing impairment0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1143
HP:0000407HP:0000407Sensorineural hearing impairment0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040283 - Occasional35
HP:0000407HP:0000407Sensorineural hearing impairment0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0000407HP:0000407Sensorineural hearing impairment0MYH14 CL E G H7978423212OMIM:600652Deafness, autosomal dominant nonsyndromic sensorineural 4227
HP:0000407HP:0000407Sensorineural hearing impairment0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0000407HP:0000407Sensorineural hearing impairment0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional452
HP:0000407HP:0000407Sensorineural hearing impairment0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1269
HP:0000407HP:0000407Sensorineural hearing impairment0MYH9 CL E G H46277579OMIM:155100Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossHP:0040284 - Very rare297
HP:0000407HP:0000407Sensorineural hearing impairment0MYH9 CL E G H46277579ORPHA:182050MYH9-related diseaseHP:0040282 - Frequent297
HP:0000407HP:0000407Sensorineural hearing impairment0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0000407HP:0000407Sensorineural hearing impairment0MYO15A CL E G H511687594OMIM:600316Deafness, neurosensory, autosomal recessive 3387
HP:0000407HP:0000407Sensorineural hearing impairment0MYO3A CL E G H539047601OMIM:607101Deafness, autosomal recessive 30168
HP:0000407HP:0000407Sensorineural hearing impairment0MYO6 CL E G H46467605OMIM:606346Deafness, autosomal dominant 22.179
HP:0000407HP:0000407Sensorineural hearing impairment0MYO6 CL E G H46467605OMIM:607821Deafness, autosomal recessive 37.179
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H46477606OMIM:601317Deafness, autosomal dominant nonsyndromic sensorineural 11516
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H46477606OMIM:600060Deafness, neurosensory, autosomal recessive 2.516
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent516
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent516
HP:0000407HP:0000407Sensorineural hearing impairment0MYO7A CL E G H46477606OMIM:276900Usher syndrome, type I.516
HP:0000407HP:0000407Sensorineural hearing impairment0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare
HP:0000407HP:0000407Sensorineural hearing impairment0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional217
HP:0000407HP:0000407Sensorineural hearing impairment0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0000407HP:0000407Sensorineural hearing impairment0NARS2 CL E G H7973126274OMIM:618434Deafness, autosomal recessive 9434
HP:0000407HP:0000407Sensorineural hearing impairment0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000407HP:0000407Sensorineural hearing impairment0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000407HP:0000407Sensorineural hearing impairment0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000407HP:0000407Sensorineural hearing impairment0ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0000407HP:0000407Sensorineural hearing impairment0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000407HP:0000407Sensorineural hearing impairment0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000407HP:0000407Sensorineural hearing impairment0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000407HP:0000407Sensorineural hearing impairment0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000407HP:0000407Sensorineural hearing impairment0ND3 CL E G H45377458