Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Deafness, X-Linked 6 |
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Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Opticocochleodentate Degeneration |
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Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
Deafness, Autosomal Dominant 77 |
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Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Deafness, Autosomal Dominant 9 |
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Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Deafness, Autosomal Recessive 109 |
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Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
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Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
Deafness, X-Linked 2 |
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Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Pendred Syndrome |
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Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:274600 |
Optic Atrophy 8 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Chromosome Xq21 Deletion Syndrome |
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Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
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Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Branchiootic Syndrome 1 |
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Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Deafness-Hypogonadism Syndrome |
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Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Usher Syndrome Type 3 |
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Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Usher Syndrome Type 1 |
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Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231169 |
Deafness, Autosomal Dominant 80 |
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Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
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 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Mohr-Tranebjaerg Syndrome |
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Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Abcd Syndrome |
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Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Pendred Syndrome |
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Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... |
ORPHA:705 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Otosclerosis 7 |
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Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
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 |
Branchiogenic Deafness Syndrome |
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Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Cochlear degeneration, Hearing impairment, Optic atrophy |
ORPHA:95433 |
Woolly Hair Nevus |
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Enlarged vestibular aqueduct |
ORPHA:79414 |
Bor Syndrome |
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Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea... |
ORPHA:107 |
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 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Aplasia of the inner ear, Microtia, first degree, Anteverted ears, Profound sensorineural hearing... |
OMIM:610706 |
Crouzon Syndrome |
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Conductive hearing impairment, Hearing impairment, Optic atrophy, Narrow internal auditory canal |
ORPHA:207 |
Otosclerosis 8 |
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Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
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Otosclerosis, Hearing impairment |
OMIM:608244 |
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 |
Branchiootorenal Syndrome 1 |
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Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... |
OMIM:113650 |
Gorham-Stout Disease |
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Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Abnormal cranial nerv... |
ORPHA:990 |
Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Waardenburg Syndrome, Type 2E |
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Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... |
OMIM:611584 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... |
OMIM:609136 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Deafness, Autosomal Dominant 67 |
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Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
ORPHA:101085 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte... |
ORPHA:1435 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... |
ORPHA:206436 |
Saethre-Chotzen Syndrome |
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Abnormal antihelix morphology, Conductive hearing impairment, Narrow internal auditory canal, Sen... |
ORPHA:794 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
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Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Abnormal cranial nerve morp... |
ORPHA:90024 |
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, Abnormal auditory evoked potentials, Abnor... |
ORPHA:171929 |
Isotretinoin-Like Syndrome |
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Anotia, Microtia, Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hearing impairment... |
ORPHA:2306 |
Distal Monosomy 10Q |
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Cochlear malformation, Morphological abnormality of the vestibule of the inner ear, Abnormality o... |
ORPHA:96148 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
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 |
Cerebrotendinous Xanthomatosis |
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Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
Schinzel-Giedion Syndrome |
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Infantile sensorineural hearing impairment, Low-set ears, Aganglionic megacolon, Hypsarrhythmia, ... |
ORPHA:798 |
Norrie Disease |
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Macrotia, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Abnormal helix morpho... |
ORPHA:649 |