Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Auditory Neuropathy, Autosomal Dominant 3 |
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Hearing impairment, Abnormal speech discrimination |
OMIM:619832 |
Deafness, Autosomal Recessive 84A |
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Hearing impairment, Abnormal vestibular function |
OMIM:613391 |
Deafness, Autosomal Recessive 1B |
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Hearing impairment, Abnormal vestibular function |
OMIM:612645 |
Deafness, Autosomal Recessive 9 |
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Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses |
OMIM:601071 |
Deafness, Autosomal Dominant 54 |
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Hearing impairment |
OMIM:615649 |
Deafness, Autosomal Dominant 24 |
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Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
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Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Recessive 106 |
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Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Dominant 52 |
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Hearing impairment |
OMIM:607683 |
Deafness, Autosomal Recessive 65 |
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Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Dominant 51 |
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Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 107 |
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Hearing impairment |
OMIM:617639 |
Deafness, Autosomal Dominant 89 |
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Hearing impairment |
OMIM:620284 |
Deafness, Autosomal Dominant 88 |
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Hearing impairment |
OMIM:620283 |
Deafness, Autosomal Recessive 33 |
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Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Recessive 96 |
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Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
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Hearing impairment |
OMIM:614899 |
Deafness, Autosomal Recessive 86 |
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Hearing impairment |
OMIM:614617 |
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 25 |
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Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment |
OMIM:613285 |
Deafness, Autosomal Dominant 85 |
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Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness, Autosomal Recessive 104 |
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Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... |
OMIM:616515 |
Deafness, Autosomal Recessive 29 |
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Hearing impairment, Sensorineural hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 20 |
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Hearing impairment, Sensorineural hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
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Hearing impairment, Sensorineural hearing impairment |
OMIM:603098 |
Deafness, X-Linked 6 |
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Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness, Autosomal Dominant 75 |
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Sensorineural hearing impairment, Abnormal cochlea morphology |
OMIM:618778 |
Deafness, Autosomal Dominant 87 |
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Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, Autosomal Dominant 44 |
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Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... |
OMIM:607453 |
Deafness, Autosomal Dominant 86 |
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Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... |
OMIM:620280 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Seizure, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Deafness, Autosomal Recessive 109 |
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Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... |
OMIM:618013 |
Deafness, Autosomal Dominant 77 |
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Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Opticocochleodentate Degeneration |
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Hearing impairment, Optic atrophy, Cochlear degeneration |
OMIM:258700 |
Deafness, Autosomal Dominant 12 |
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Sensorineural hearing impairment |
OMIM:601543 |
Deafness, Autosomal Recessive 21 |
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Sensorineural hearing impairment |
OMIM:603629 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
Optic Atrophy 8 |
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Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
Deafness, Autosomal Dominant 9 |
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Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... |
OMIM:601369 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Sensorineural hearing impairment, Seizure, Abnormal auditory evoked potentials, Abnormality of vi... |
ORPHA:320401 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
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Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:619553 |
Meniere Disease |
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Hearing impairment, Vertigo, Tinnitus |
OMIM:156000 |
Non-Syndromic Genetic Deafness |
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Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... |
ORPHA:87884 |
Deafness, X-Linked 2 |
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Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... |
OMIM:304400 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
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Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... |
OMIM:300614 |
Pendred Syndrome |
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Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation |
OMIM:274600 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Deafness, Autosomal Dominant 50 |
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Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... |
OMIM:613074 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Deafness, Autosomal Dominant 80 |
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Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... |
OMIM:619274 |
Abcd Syndrome |
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Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Otosclerosis 7 |
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Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... |
OMIM:611572 |
Usher Syndrome Type 3 |
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Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231183 |
Deafness, Autosomal Dominant 2A |
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Hearing impairment, Tinnitus |
OMIM:600101 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... |
ORPHA:52368 |
Branchiootic Syndrome 1 |
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Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... |
OMIM:602588 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Seizure, Facial palsy, Absent brainstem auditory responses, EEG... |
OMIM:617519 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Usher Syndrome Type 1 |
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Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231169 |
Deafness-Hypogonadism Syndrome |
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Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... |
ORPHA:90646 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
Charcot-Marie-Tooth Disease, Type 4C |
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Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... |
OMIM:601596 |
Pendred Syndrome |
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Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... |
ORPHA:705 |
Otosclerosis 8 |
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Hearing impairment, Otosclerosis |
OMIM:612096 |
Otosclerosis 3 |
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Hearing impairment, Otosclerosis |
OMIM:608244 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Leukodystrophy, Hypomyelinating, 5 |
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Seizure, Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response co... |
OMIM:610532 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Late-Infantile/Juvenile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:619260 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Seizure, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Seizure, Abnormal auditory evoked potentials |
ORPHA:529799 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
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Seizure, Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Leukodystrophy, Hypomyelinating, 13 |
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Optic atrophy, Delayed brainstem auditory evoked response conduction time |
OMIM:616881 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Hearing impairment, Optic atrophy, Cochlear degeneration |
ORPHA:95433 |
Infantile Krabbe Disease |
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Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
Arthrogryposis, Distal, Type 2A |
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Hearing impairment, Seizure, Abnormal auditory evoked potentials |
OMIM:193700 |
Adult Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
Waardenburg Syndrome, Type 2E |
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Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... |
OMIM:611584 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... |
ORPHA:101085 |
Trisomy 10P |
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Low voltage EEG, EEG with focal spikes, Seizure, Low-set ears, Abnormal auditory evoked potential... |
ORPHA:171929 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Seizure, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnorm... |
ORPHA:90321 |
Mogs-Cdg |
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Optic atrophy, Sensorineural hearing impairment, Seizure, Absent brainstem auditory responses, Ab... |
ORPHA:79330 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... |
ORPHA:99027 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Decreased nerve conduction velocity, Palatal tremor, Seizure, Abnormal auditory ev... |
ORPHA:909 |
Cockayne Syndrome B |
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Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:133540 |
Cockayne Syndrome A |
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Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:216400 |
Mend Syndrome |
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Low-set ears, Seizure, Abnormal auditory evoked potentials |
ORPHA:401973 |