Deafness, Autosomal Dominant 87 |
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Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, Autosomal Dominant 85 |
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Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
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, X-Linked 6 |
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Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness, Autosomal Dominant 80 |
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Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Pendred Syndrome |
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Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Chromosome Xq21 Deletion Syndrome |
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Chorioretinal degeneration, Progressive sensorineural hearing impairment, Chorioretinal atrophy, ... |
OMIM:303110 |
Opticocochleodentate Degeneration |
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Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Woolly Hair Nevus |
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Enlarged vestibular aqueduct |
ORPHA:79414 |
Deafness, X-Linked 2 |
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Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Deafness-Hypogonadism Syndrome |
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Stapes ankylosis, Abnormality of the middle ear ossicles, Conductive hearing impairment, Severe c... |
ORPHA:90646 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Pendred Syndrome |
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Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Branchiootic Syndrome 1 |
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Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Deafness, Autosomal Dominant 9 |
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Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
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Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Branchiootorenal Syndrome 1 |
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Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Waardenburg Syndrome, Type 2E |
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Aplasia of the semicircular canal, Sensorineural hearing impairment, Ocular albinism, Dilated ves... |
OMIM:611584 |
Usher Syndrome Type 3 |
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Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Usher Syndrome Type 1 |
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Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Distal Deletion 10Q |
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Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Facial dipleg... |
ORPHA:96148 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
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Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Branchiogenic Deafness Syndrome |
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Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
7Q31 Microdeletion Syndrome |
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Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... |
ORPHA:251061 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Bor Syndrome |
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Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Apert Syndrome |
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Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... |
ORPHA:87 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Abnormal chorioretinal morphology, Chorioretinal degeneration, Dilatated intern... |
ORPHA:1435 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... |
ORPHA:990 |
Distal Renal Tubular Acidosis |
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Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
Gorham-Stout Disease |
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Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Cardiospondylocarpofacial Syndrome |
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Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
Noonan Syndrome |
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Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Charge Syndrome |
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Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A... |
ORPHA:138 |
Norrie Disease |
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Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Charge Syndrome |
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Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... |
OMIM:214800 |
Schinzel-Giedion Syndrome |
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Abnormality of the stapes, Aganglionic megacolon, Abnormal cochlea morphology, Large earlobe, Abn... |
ORPHA:798 |