Deafness, Autosomal Dominant 87 |
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Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
Deafness, Autosomal Recessive 109 |
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Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
Deafness, Autosomal Dominant 85 |
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Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... |
OMIM:600791 |
Deafness, Autosomal Dominant 75 |
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Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
Deafness, X-Linked 6 |
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Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
Deafness, Autosomal Dominant 77 |
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Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
Pendred Syndrome |
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Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... |
ORPHA:705 |
Chromosome Xq21 Deletion Syndrome |
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Conductive hearing impairment, Progressive sensorineural hearing impairment, Hearing impairment, ... |
OMIM:303110 |
Opticocochleodentate Degeneration |
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Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Woolly Hair Nevus |
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Enlarged vestibular aqueduct |
ORPHA:79414 |
Waardenburg Syndrome, Type 2E |
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Hypopigmentation of the fundus, Ocular albinism, Aplasia of the semicircular canal, Abnormal morp... |
OMIM:611584 |
Deafness, X-Linked 2 |
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Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... |
OMIM:304400 |
Deafness-Hypogonadism Syndrome |
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Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... |
ORPHA:90646 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Branchiootic Syndrome 1 |
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Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... |
OMIM:602588 |
Pendred Syndrome |
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Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Deafness, Autosomal Dominant 9 |
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Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
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Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... |
OMIM:300614 |
Branchiootorenal Syndrome 1 |
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Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... |
OMIM:113650 |
Usher Syndrome Type 3 |
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Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment |
ORPHA:231183 |
Usher Syndrome Type 1 |
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Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment |
ORPHA:231169 |
Distal Deletion 10Q |
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Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... |
ORPHA:96148 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
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Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
7Q31 Microdeletion Syndrome |
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Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... |
ORPHA:251061 |
Branchiogenic Deafness Syndrome |
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Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... |
ORPHA:50815 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... |
ORPHA:52368 |
Bor Syndrome |
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Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... |
ORPHA:107 |
Apert Syndrome |
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Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur... |
ORPHA:87 |
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
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Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairment |
OMIM:620469 |
Xq21 Microdeletion Syndrome |
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Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Reticular pigmen... |
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 |
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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Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
Distal Renal Tubular Acidosis |
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Enlarged vestibular aqueduct, Sensorineural hearing impairment |
ORPHA:18 |
Cardiospondylocarpofacial Syndrome |
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Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi... |
OMIM:157800 |
Charge Syndrome |
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Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Chorioretinal coloboma, Lo... |
ORPHA:138 |
Isotretinoin-Like Syndrome |
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Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... |
ORPHA:2306 |
Noonan Syndrome |
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Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... |
ORPHA:648 |
Norrie Disease |
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Optic atrophy, Abnormal helix morphology, Abnormal chorioretinal morphology, Sensorineural hearin... |
ORPHA:649 |
Charge Syndrome |
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Low-set ears, Cupped ear, Retinal coloboma, Aplasia of the semicircular canal, Sensorineural hear... |
OMIM:214800 |
Schinzel-Giedion Syndrome |
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Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Large earlobe, Aganglionic... |
ORPHA:798 |