Usher Syndrome, Type Ic |
|
Rod-cone dystrophy, Vestibular hypofunction, Congenital sensorineural hearing impairment |
OMIM:276904 |
Deafness, Autosomal Recessive 12 |
|
Rod-cone dystrophy, Prelingual sensorineural hearing impairment, Abnormal vestibular function |
OMIM:601386 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Deafness, Autosomal Recessive 37 |
|
Congenital stationary night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Abno... |
OMIM:607821 |
Usher Syndrome, Type Iia |
|
Rod-cone dystrophy, Congenital sensorineural hearing impairment |
OMIM:276901 |
Usher Syndrome, Type Iic |
|
Rod-cone dystrophy, Congenital sensorineural hearing impairment |
OMIM:605472 |
Usher Syndrome, Type If |
|
Rod-cone dystrophy, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:602083 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Deafness-Oligodontia Syndrome |
|
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo |
ORPHA:3230 |
Deafness, Autosomal Recessive 2 |
|
Vertigo, Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:600060 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618094 |
Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:600974 |
Deafness, Autosomal Dominant 56 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:617605 |
Deafness, Autosomal Dominant 74 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618140 |
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 18B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614945 |
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 Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
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 35 |
|
Abnormal ear morphology, Sensorineural hearing impairment |
OMIM:608565 |
Deafness, Autosomal Dominant 4B |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:614614 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Optic atrophy,... |
OMIM:616648 |
Usher Syndrome, Type I |
|
Rod-cone dystrophy, Sensorineural hearing impairment, Absent vestibular function |
OMIM:276900 |
Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology, Sensorineural hearing impairment |
ORPHA:3465 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration, Sensorineural hearing impairment |
OMIM:238340 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy, Sensorineural hearing impairment |
OMIM:268010 |
Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
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 Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
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 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
Liberfarb Syndrome |
|
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Bone... |
OMIM:618889 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:320401 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... |
OMIM:614296 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peri... |
OMIM:617879 |
Usher Syndrome, Type Iv |
|
Sensorineural hearing impairment, Hyperautofluorescent macular lesion, Retinal atrophy, Retinal d... |
OMIM:618144 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Papilledema, Progressive hearing impairment, Bilateral sensorine... |
OMIM:124950 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment,... |
OMIM:125250 |
Peroxisome Biogenesis Disorder 7B |
|
Retinal dystrophy, Sensorineural hearing impairment |
OMIM:614873 |
Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Conductive hearing impairment, Choroideremia, Progressive se... |
OMIM:303110 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... |
ORPHA:87884 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... |
OMIM:601455 |
Usher Syndrome, Type Iiia |
|
Rod-cone dystrophy, Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:276902 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... |
ORPHA:1215 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen, Abnormal vestibular function |
OMIM:618632 |
Canavan Disease |
|
Optic atrophy, EEG abnormality, Abnormality of retinal pigmentation, Abnormality of visual evoked... |
ORPHA:141 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy |
ORPHA:85297 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy, Sensorineural hearing impair... |
ORPHA:90654 |
Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... |
ORPHA:52368 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... |
OMIM:600501 |
Usher Syndrome, Type Ie |
|
Rod-cone dystrophy, Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... |
OMIM:618195 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Retinal degeneration, Abnormal vestibular function, Vertigo, Pi... |
OMIM:520000 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Low-set ears, Abnormality of vi... |
ORPHA:2971 |
Stickler Syndrome, Type V |
|
Retinal detachment, Sensorineural hearing impairment, Vitreoretinopathy |
OMIM:614284 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Retinal degeneration, Macu... |
OMIM:619260 |
Usher Syndrome, Type Ig |
|
Rod-cone dystrophy, Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:606943 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Mild neurosensory hearing impairment, Optic atrophy, Decreased motor nerve conduction velocity, T... |
OMIM:601152 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Cochlear aplasia, Congenital sensorineural hearing impairment, Abnormal vestibular function |
OMIM:619553 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Krabbe Disease |
|
EEG abnormality, Optic atrophy, Abnormal flash visual evoked potentials, Decreased nerve conducti... |
OMIM:245200 |
Heimler Syndrome 1 |
|
Sensorineural hearing impairment, Macular dystrophy |
OMIM:234580 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... |
ORPHA:100084 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormality of visual evok... |
ORPHA:1933 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Macrotia, Undetectable visual evoked potentials, Patchy atrophy of the retina... |
ORPHA:436245 |
Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Undetectable visual evoked potentials, Sensorineural hearing impairment, Optic atrophy, Progressi... |
OMIM:601338 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Hearing impairment,... |
OMIM:256600 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Sensorineural hearing impairment, Optic atrophy, Bone spicule pigmentation of... |
OMIM:268315 |
Retinitis Pigmentosa |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormality of re... |
ORPHA:791 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, EEG abnormality, Hypsarrhythmia, Decreased nerve conduction velocity, Optic disc p... |
ORPHA:485421 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration, Sensorineural hearing impairment |
OMIM:617236 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Sensorineural hearing impairment, Undetectable visual evoked potentials, Retinal dystrophy, Low-s... |
ORPHA:423479 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Oculocutaneous Albinism Type 1 |
|
Depigmented fundus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the c... |
ORPHA:352731 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Hearing impairment, Optic atrophy |
ORPHA:702 |
Xq12-Q13.3 Duplication Syndrome |
|
Cleft earlobe, Hypsarrhythmia, Anterior creases of earlobe, Optic disc pallor, Abnormality of vis... |
ORPHA:314389 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with generalized slow activity grade 4, EEG with series of focal spikes, Retinal degeneration... |
ORPHA:168491 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Bila... |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Bila... |
ORPHA:309263 |
Infantile Krabbe Disease |
|
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potential... |
ORPHA:206436 |
Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action potentials, Ab... |
OMIM:229300 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Abnormality of visual evoked potentials, Optic atrophy, EEG abnormality |
ORPHA:480898 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Micro Syndrome |
|
Macrotia, Optic atrophy, Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, ... |
ORPHA:2510 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality of visual evok... |
ORPHA:79330 |
Mpdu1-Cdg |
|
Hypsarrhythmia, Absence of acoustic reflex, Undetectable visual evoked potentials, Optic atrophy |
ORPHA:79323 |
Infantile Neuroaxonal Dystrophy |
|
Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve conduction, Abnorma... |
ORPHA:35069 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
ORPHA:101085 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormality of visual evok... |
OMIM:231550 |
Cln5 Disease |
|
EEG with focal spikes, Multifocal epileptiform discharges, EEG with generalized slow activity, Ab... |
ORPHA:228360 |
Metachromatic Leukodystrophy, Adult Form |
|
Orthostatic hypotension due to autonomic dysfunction, Optic atrophy, Decreased nerve conduction v... |
ORPHA:309271 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:616875 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Oculocutaneous Albinism Type 1A |
|
Abnormal optic nerve morphology, Hypoplasia of the fovea, Abnormality of visual evoked potentials... |
ORPHA:79431 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Retinal atrophy, Abnormal auditory evoked potent... |
OMIM:216400 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Cockayne Syndrome Type 1 |
|
Pigmentary retinopathy, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Abse... |
ORPHA:90321 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
White-Sutton Syndrome |
|
Rod-cone dystrophy, Sensorineural hearing impairment, Optic nerve hypoplasia, Abnormality of the ... |
OMIM:616364 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Hearing impairment |
ORPHA:512 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Abnormality of visual evoked potentials, Hearing impairment, Otitis media |
ORPHA:667 |
Hermansky-Pudlak Syndrome |
|
Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Ocular albinism |
ORPHA:79430 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Facial palsy |
ORPHA:258 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials |
OMIM:203700 |