Auditory Neuropathy, Autosomal Dominant 3 |
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Hearing impairment, Abnormal speech discrimination |
OMIM:619832 |
Deafness, Autosomal Recessive 84A |
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Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
Deafness, Autosomal Recessive 1B |
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Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Dominant 65 |
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Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Deafness, Autosomal Dominant 17 |
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High-frequency hearing impairment |
OMIM:603622 |
Deafness, Aminoglycoside-Induced |
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Aminoglycoside-induced hearing loss |
OMIM:580000 |
Deafness, Autosomal Recessive 102 |
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Profound hearing impairment |
OMIM:615974 |
Deafness, Autosomal Dominant 7 |
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High-frequency hearing impairment |
OMIM:601412 |
Deafness, Autosomal Recessive 91 |
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Progressive hearing impairment |
OMIM:613453 |
Deafness, Autosomal Dominant 2B |
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High-frequency hearing impairment |
OMIM:612644 |
Deafness, Autosomal Dominant 18 |
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Progressive hearing impairment |
OMIM:606012 |
Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Dominant 24 |
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Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Dominant 51 |
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Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
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Hearing impairment |
OMIM:614899 |
Tune Deafness |
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Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Dominant 15 |
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Hearing impairment |
OMIM:602459 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Facial Paresis, Hereditary Congenital, 2 |
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Hearing impairment, Facial palsy |
OMIM:604185 |
Deafness, Autosomal Recessive 25 |
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Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
Usher Syndrome, Type Id |
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Abnormal vestibular function, Hearing impairment |
OMIM:601067 |
Deafness, Autosomal Recessive 74 |
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Hearing impairment |
OMIM:613718 |
Deafness, Autosomal Recessive 30 |
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Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Keratoderma, Palmoplantar, With Deafness |
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Hearing impairment |
OMIM:148350 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Deafness, Autosomal Recessive 29 |
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Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 20 |
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Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
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Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 57 |
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Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Fibromatosis, Gingival, 1 |
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Hearing impairment |
OMIM:135300 |
Deafness, Autosomal Dominant 49 |
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Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, X-Linked 4 |
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Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Deafness, Mid-Tone Neural |
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Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
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Abnormal vestibular function, Hearing impairment |
OMIM:614934 |
Cochleosaccular Degeneration With Progressive Cataracts |
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Hearing impairment |
OMIM:120040 |
Deafness, Autosomal Recessive 15 |
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Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Dominant 22 |
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Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
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Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 67 |
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Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Preaxial Hallucal Polydactyly |
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Diabetes mellitus, Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Meniere Disease |
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Hearing impairment, Tinnitus, Vertigo |
OMIM:156000 |
Deafness, Autosomal Dominant 41 |
|
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Deafness, Autosomal Dominant 50 |
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Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Optic Atrophy 8 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Deafness, Autosomal Dominant 58 |
|
Hearing impairment, Tinnitus |
OMIM:615654 |
Deafness, Autosomal Dominant 2A |
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Hearing impairment, Tinnitus |
OMIM:600101 |
Non-Syndromic Genetic Deafness |
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Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... |
ORPHA:87884 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Otosclerosis 7 |
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Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
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Bilateral sensorineural hearing impairment, Tinnitus, High-frequency hearing impairment |
OMIM:605594 |
Abcd Syndrome |
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Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Vestibulocochlear Dysfunction, Progressive |
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Progressive hearing impairment, Tinnitus, Vestibular areflexia |
OMIM:193005 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Mohr-Tranebjaerg Syndrome |
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Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Acrocraniofacial Dysostosis |
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Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
ORPHA:101085 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... |
ORPHA:206436 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Cockayne Syndrome Type 1 |
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Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Trisomy 10P |
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Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Cerebrotendinous Xanthomatosis |
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Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:216400 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |