Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Dominant 11 |
|
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment |
OMIM:601317 |
Deafness, Autosomal Recessive 2 |
|
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction |
OMIM:600060 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
Deafness, Autosomal Recessive 94 |
|
Vestibular dysfunction, Bilateral sensorineural hearing impairment |
OMIM:618434 |
Deafness, Autosomal Recessive 48 |
|
Profound sensorineural hearing impairment, Vestibular dysfunction |
OMIM:609439 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:600974 |
Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617605 |
Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural hearing impairment |
OMIM:607101 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Deafness, Autosomal Recessive 40 |
|
Prelingual sensorineural hearing impairment |
OMIM:608264 |
Deafness, Autosomal Recessive 39 |
|
Prelingual sensorineural hearing impairment |
OMIM:608265 |
Deafness, Autosomal Dominant 4A |
|
Progressive sensorineural hearing impairment |
OMIM:600652 |
Deafness, Autosomal Recessive 71 |
|
Prelingual sensorineural hearing impairment |
OMIM:612789 |
Deafness, Autosomal Recessive 45 |
|
Prelingual sensorineural hearing impairment |
OMIM:612433 |
Deafness, Autosomal Dominant 5 |
|
Progressive sensorineural hearing impairment |
OMIM:600994 |
Deafness, Autosomal Recessive 62 |
|
Prelingual sensorineural hearing impairment |
OMIM:610143 |
Deafness, Autosomal Dominant 78 |
|
Profound sensorineural hearing impairment |
OMIM:619081 |
Deafness, Autosomal Dominant 79 |
|
Progressive sensorineural hearing impairment |
OMIM:619086 |
Deafness, Autosomal Recessive 49 |
|
Prelingual sensorineural hearing impairment |
OMIM:610153 |
Deafness, Autosomal Recessive 44 |
|
Prelingual sensorineural hearing impairment |
OMIM:610154 |
Deafness, Autosomal Recessive 12 |
|
Prelingual sensorineural hearing impairment |
OMIM:601386 |
Deafness, Autosomal Recessive 38 |
|
Prelingual sensorineural hearing impairment |
OMIM:608219 |
Deafness, Autosomal Recessive 24 |
|
Profound sensorineural hearing impairment |
OMIM:611022 |
Deafness, Autosomal Recessive 83 |
|
Prelingual sensorineural hearing impairment |
OMIM:613685 |
Deafness, Autosomal Recessive 46 |
|
Profound sensorineural hearing impairment |
OMIM:609647 |
Deafness, Autosomal Dominant 70 |
|
Progressive sensorineural hearing impairment |
OMIM:616968 |
Deafness, Autosomal Recessive 76 |
|
Progressive sensorineural hearing impairment |
OMIM:615540 |
Deafness, Autosomal Recessive 111 |
|
Progressive sensorineural hearing impairment |
OMIM:618145 |
Deafness, Autosomal Recessive 28 |
|
Severe sensorineural hearing impairment |
OMIM:609823 |
Deafness, Autosomal Recessive 85 |
|
Prelingual sensorineural hearing impairment |
OMIM:613392 |
Deafness, Autosomal Recessive 3 |
|
Profound sensorineural hearing impairment |
OMIM:600316 |
Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment |
OMIM:615837 |
Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Usher Syndrome, Type Ic |
|
Vestibular hypofunction, Congenital sensorineural hearing impairment |
OMIM:276904 |
Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
Usher Syndrome, Type Iia |
|
Congenital sensorineural hearing impairment |
OMIM:276901 |
Usher Syndrome, Type Iic |
|
Congenital sensorineural hearing impairment |
OMIM:605472 |
Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
Usher Syndrome, Type If |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment |
OMIM:602083 |
Fibromatosis, Gingival, With Progressive Deafness |
|
Progressive sensorineural hearing impairment |
OMIM:135550 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:212850 |
Ataxia-Deafness-Retardation Syndrome |
|
Progressive sensorineural hearing impairment |
OMIM:208850 |
Deafness, Autosomal Recessive 37 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:607821 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
Deafness-Oligodontia Syndrome |
|
Congenital sensorineural hearing impairment |
OMIM:221740 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... |
OMIM:613074 |
Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment |
OMIM:208750 |
Nathalie Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2663 |
Usher Syndrome, Type I |
|
Sensorineural hearing impairment, Absent vestibular function |
OMIM:276900 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
Deafness, Autosomal Dominant 41 |
|
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:608224 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Deafness, Autosomal Dominant 64 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:616340 |
Deafness, Autosomal Dominant 36 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:606705 |
Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Autosomal Dominant 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment |
OMIM:238340 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sensorineural hearing impairment |
OMIM:620009 |
Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
Deafness, Autosomal Recessive 103 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia |
OMIM:616042 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment |
ORPHA:94064 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials |
ORPHA:99852 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1383 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1490 |
Waardenburg Syndrome, Type 2D |
|
Congenital sensorineural hearing impairment |
OMIM:608890 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment |
OMIM:608653 |
Deafness, Autosomal Dominant 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:605192 |
Deafness, Autosomal Recessive 108 |
|
Congenital sensorineural hearing impairment |
OMIM:617654 |
Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment |
OMIM:268010 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:605594 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment |
OMIM:613076 |
Cone-Rod Dystrophy And Hearing Loss 2 |
|
High-frequency sensorineural hearing impairment |
OMIM:618358 |
Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment |
OMIM:600193 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2027 |
Peroxisome Biogenesis Disorder 7B |
|
Sensorineural hearing impairment |
OMIM:614873 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy |
ORPHA:85297 |
Usher Syndrome, Type Iiia |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:276902 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Adult onset sensorineural ... |
ORPHA:1368 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment |
OMIM:217400 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment |
OMIM:221700 |
Lowe-Kohn-Cohen Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2408 |
Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Sensorineural hearing impairment, EEG abnormality |
ORPHA:3239 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1144 |
Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... |
ORPHA:100084 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... |
OMIM:601596 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617992 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment |
ORPHA:3225 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Sensorineural hearing impairment |
ORPHA:66633 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Sensorineural hearing impairment, Aganglionic megacolon |
ORPHA:2155 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Sensorineural hearing impairment |
OMIM:267300 |
Usher Syndrome, Type Ig |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:606943 |
Björnstad Syndrome |
|
Sensorineural hearing impairment |
ORPHA:123 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Short-segment aganglionic megacolon |
OMIM:619465 |
Perrault Syndrome 2 |
|
Sensorineural hearing impairment |
OMIM:614926 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Sensorineural hearing impairment |
OMIM:264140 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... |
OMIM:201050 |
Stickler Syndrome, Type V |
|
Sensorineural hearing impairment |
OMIM:614284 |
Perrault Syndrome 3 |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment |
OMIM:614129 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Heimler Syndrome 1 |
|
Sensorineural hearing impairment |
OMIM:234580 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Cerebral atrophy, Brain atrophy, Optic disc pallor, Abnormal au... |
OMIM:619260 |
Hypokalemic Tubulopathy And Deafness |
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Sensorineural hearing impairment |
OMIM:619406 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Branchiootic Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... |
ORPHA:52429 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Diffuse cerebral atrophy, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Otosclerosis 4 |
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Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... |
ORPHA:99027 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
Arthrogryposis, Distal, Type 2A |
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Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials |
OMIM:193700 |
Nephropathy, Deafness, And Hyperparathyroidism |
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Sensorineural hearing impairment |
OMIM:256120 |
Adult Krabbe Disease |
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EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... |
OMIM:609136 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Optic atrophy, Diffuse cerebral atrophy, Hearing impairment,... |
ORPHA:206436 |
Trisomy 10P |
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EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... |
ORPHA:171929 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Mogs-Cdg |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Optic atrophy |
ORPHA:79330 |
Cerebrotendinous Xanthomatosis |
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Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Axonal d... |
ORPHA:909 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:216400 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:133540 |
Mend Syndrome |
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Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |