Auditory Neuropathy, Autosomal Dominant 3 |
|
Hearing impairment, Abnormal speech discrimination |
OMIM:619832 |
Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Deafness, Autosomal Dominant 65 |
|
Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Facial Paresis, Hereditary Congenital, 2 |
|
Hearing impairment, Facial palsy |
OMIM:604185 |
Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
Usher Syndrome, Type Id |
|
Abnormal vestibular function, Hearing impairment |
OMIM:601067 |
Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Keratoderma, Palmoplantar, With Deafness |
|
Hearing impairment |
OMIM:148350 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
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 |
Fibromatosis, Gingival, 1 |
|
Hearing impairment |
OMIM:135300 |
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Abnormal vestibular function, Hearing impairment |
OMIM:614934 |
Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:619500 |
Deafness, Autosomal Dominant 74 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618140 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618094 |
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 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
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 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Hearing impairment |
OMIM:120040 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
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 Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
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 Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
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 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
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 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, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
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 Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
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 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 Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
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 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Usher Syndrome, Type Iiib |
|
Truncal ataxia, Photophobia, Ataxia, Visual impairment |
OMIM:614504 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Reduced visual acuity, Central scotoma, Ataxia, Color vision defect, Blind-spot enlargment, Photo... |
OMIM:616732 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Liberfarb Syndrome |
|
Short stature, Retinal degeneration, Retinal pigment epithelial mottling, Bone spicule pigmentati... |
OMIM:618889 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Macular dystrophy |
OMIM:600110 |
Meniere Disease |
|
Hearing impairment, Tinnitus, Vertigo |
OMIM:156000 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Deafness, Autosomal Dominant 41 |
|
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Deafness, Autosomal Dominant 2A |
|
Hearing impairment, Tinnitus |
OMIM:600101 |
Deafness, Autosomal Dominant 58 |
|
Hearing impairment, Tinnitus |
OMIM:615654 |
Tritanopia |
|
Tritanomaly, Photophobia, Color vision test abnormality, Reduced visual acuity |
ORPHA:88629 |
Achromatopsia 4 |
|
Photophobia, Visual impairment, Achromatopsia |
OMIM:613856 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Blurred vision, Photophobia, Visual impairment, Reduced visual acuity |
OMIM:204870 |
Blue Cone Monochromacy |
|
Reduced visual acuity, Blue cone monochromacy, Visual impairment, Myopia, Photophobia |
OMIM:303700 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Optic Atrophy 6 |
|
Photophobia, Red-green dyschromatopsia, Visual impairment |
OMIM:258500 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Photophobia, Ataxia, Reduced visual acuity |
OMIM:618970 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness, Phonophobia |
OMIM:609634 |
Episodic Ataxia Type 6 |
|
Diplopia, Reduced visual acuity, Phonophobia, Ataxia, Photophobia |
ORPHA:209967 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Optic Atrophy 12 |
|
Abnormal Ishihara plate test, Photophobia, Dyschromatopsia, Reduced visual acuity |
OMIM:618977 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... |
ORPHA:87884 |
Bradyopsia |
|
Photophobia, Visual impairment |
ORPHA:75374 |
Cone Dystrophy 4 |
|
Visual impairment, Photophobia, Dyschromatopsia, Reduced visual acuity |
OMIM:613093 |
Cone-Rod Synaptic Disorder, Congenital Nonprogressive |
|
Color vision defect, Photophobia, Congenital stationary night blindness, Visual impairment |
OMIM:610427 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Cone-Rod Dystrophy 13 |
|
Color vision defect, Photophobia, Visual impairment, Reduced visual acuity |
OMIM:608194 |
Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Cone-Rod Dystrophy 17 |
|
Photophobia, Central scotoma, Visual impairment |
OMIM:615163 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Cone Dystrophy 3 |
|
Progressive visual loss, Photophobia, Reduced visual acuity |
OMIM:602093 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Macular Dystrophy, Vitelliform, 3 |
|
Reduced visual acuity, Color vision defect, Metamorphopsia, Visual impairment, Photophobia |
OMIM:608161 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Choroidal Dystrophy, Central Areolar 2 |
|
Photophobia |
OMIM:613105 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Progressive Cone Dystrophy |
|
Color vision defect, Photophobia, Visual impairment |
ORPHA:1871 |
Cone-Rod Dystrophy 5 |
|
Color vision defect, Photophobia, Central scotoma, Reduced visual acuity |
OMIM:600977 |
Achromatopsia 7 |
|
Achromatopsia, Photophobia, Central scotoma, Reduced visual acuity |
OMIM:616517 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Retinal degeneration, Growth delay, Optic atrophy |
OMIM:614322 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Gait ataxia, Photophobia, Neoplasm |
ORPHA:438134 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Cone-Rod Dystrophy And Hearing Loss 2 |
|
Photophobia, Reduced visual acuity |
OMIM:618358 |
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis |
|
Photophobia, Visual impairment |
OMIM:204110 |
Cone Rod Dystrophy |
|
Color vision defect, Photophobia, Nyctalopia, Visual impairment |
ORPHA:1872 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Blue Cone Monochromatism |
|
Photophobia, Blue cone monochromacy, Visual impairment |
ORPHA:16 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Reduced visual acuity, Color vision defect, Visual impairment, Myopia, Photophobia, Nyctalopia |
OMIM:304020 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Mild myopia, Nyctalopia |
OMIM:617024 |
Red Skin Pigment Anomaly Of New Guinea |
|
Photophobia |
OMIM:266350 |
Leber Congenital Amaurosis 14 |
|
Congenital blindness, Falls, Reduced visual acuity, Photophobia, Nyctalopia |
OMIM:613341 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Photophobia, Nyctalopia, Central scotoma, Reduced visual acuity |
OMIM:616079 |
Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Rhizomelia, Optic atrophy, Cone/cone-rod dystrophy, Short stature, Retinal de... |
OMIM:602271 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Corneal Dystrophy, Fleck |
|
Photophobia |
OMIM:121850 |
Posterior Cortical Atrophy |
|
Cerebral visual impairment, Ataxia, Color vision defect, Photophobia, Abnormality of vision |
ORPHA:54247 |
Retinitis Pigmentosa 17 |
|
Color vision defect, Photophobia, Nyctalopia |
OMIM:600852 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Albinism, Oculocutaneous, Type Vi |
|
Photophobia, Visual impairment, Reduced visual acuity |
OMIM:113750 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
Leber Congenital Amaurosis 16 |
|
Reduced visual acuity, Visual field defect, Visual impairment, Photophobia, Nyctalopia |
OMIM:614186 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
Morm Syndrome |
|
Photophobia, Progressive night blindness, Visual impairment, Truncal obesity |
ORPHA:75858 |
Achromatopsia |
|
Monochromacy, Reduced visual acuity, Central scotoma, Hypermetropia, Color vision defect, Myopia,... |
ORPHA:49382 |
Cone-Rod Dystrophy 21 |
|
Photophobia, Nyctalopia, Reduced visual acuity |
OMIM:616502 |
Leber Congenital Amaurosis 2 |
|
Blindness, Reduced visual acuity, Eye poking, Photophobia, Nyctalopia |
OMIM:204100 |
Oligocone Trichromacy |
|
Photophobia |
ORPHA:75378 |
Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Episodic Ataxia, Type 6 |
|
Diplopia, Truncal ataxia, Episodic ataxia, Phonophobia, Photophobia |
OMIM:612656 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Achromatopsia 3 |
|
Monochromacy, Achromatopsia, Moderately reduced visual acuity, Dyschromatopsia, Severely reduced ... |
OMIM:262300 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Photophobia, Visual impairment |
OMIM:300650 |
Cone-Rod Dystrophy 15 |
|
Progressive visual loss, Color vision defect, Constriction of peripheral visual field, Photophobi... |
OMIM:613660 |
Albinism, Oculocutaneous, Type Ib |
|
Photophobia, Visual impairment |
OMIM:606952 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Albinism, Oculocutaneous, Type V |
|
Photophobia |
OMIM:615312 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
Macular Dystrophy, Patterned, 1 |
|
Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity |
OMIM:169150 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Vacuolated lymphoc... |
OMIM:204200 |
Retinal Cone Dystrophy 4 |
|
Photophobia, Constriction of peripheral visual field, Visual impairment, Reduced visual acuity |
OMIM:610478 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Retinal Cone Dystrophy 3B |
|
Reduced visual acuity, Scotoma, Myopia, Photophobia, Nyctalopia |
OMIM:610356 |
Epithelial Recurrent Erosion Dystrophy |
|
Photophobia, Visual impairment |
OMIM:122400 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
OMIM:267760 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Leber Congenital Amaurosis 1 |
|
Blindness, Reduced visual acuity, Eye poking, Photophobia, Nyctalopia |
OMIM:204000 |
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, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Short stature, Retinal dystrophy, Bone sp... |
OMIM:616108 |
Glaucoma 3, Primary Congenital, D |
|
Photophobia |
OMIM:613086 |
Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Delayed puberty, Severe short stature, Pigmentary retinopathy |
OMIM:275400 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Retinal degeneration, Macular degeneration, Vacuolated lymphocytes, Optic atrophy |
OMIM:256730 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Macular Dystrophy, Corneal |
|
Photophobia |
OMIM:217800 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
Retinitis Pigmentosa 3 |
|
Reduced visual acuity, Color vision defect, Constriction of peripheral visual field, Ring scotoma... |
OMIM:300029 |
Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
Leber Congenital Amaurosis 6 |
|
Severely reduced visual acuity, High hypermetropia, Photophobia |
OMIM:613826 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
Retinal Cone Dystrophy 3A |
|
Reduced visual acuity, Dyschromatopsia, Photophobia, High myopia, Nyctalopia |
OMIM:610024 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Leber Congenital Amaurosis 7 |
|
Photophobia, Visual impairment |
OMIM:613829 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy, Short stature |
OMIM:615993 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Progressive visual loss, Photophobia, Ataxia |
OMIM:215470 |
Corneal Dystrophy, Meesmann, 1 |
|
Photophobia, Reduced visual acuity |
OMIM:122100 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Reduced visual acuity, Central scotoma, Color vision defect, Visual impairment, Myopia, Photophobia |
OMIM:300476 |
Retinitis Pigmentosa 79 |
|
Photophobia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity |
OMIM:617460 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Cone-Rod Dystrophy 16 |
|
Progressive visual loss, Photophobia, Nyctalopia, Reduced visual acuity |
OMIM:614500 |
Oculocutaneous Albinism, Type Viii |
|
Photophobia, Reduced visual acuity |
OMIM:619165 |
Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Basal ganglia gliosis, Optic atrophy |
ORPHA:225154 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Bilateral sensorineural hearing impairment, Tinnitus, High-frequency hearing impairment |
OMIM:605594 |
Keratoendotheliitis Fugax Hereditaria |
|
Blurred vision, Photophobia |
OMIM:148200 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Corneal Dystrophy, Meesmann, 2 |
|
Photophobia |
OMIM:618767 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Migraine With Or Without Aura, Susceptibility To, 12 |
|
Photophobia, Phonophobia |
OMIM:611706 |
Migraine With Or Without Aura, Susceptibility To, 1 |
|
Photophobia, Phonophobia |
OMIM:157300 |
Migraine With Or Without Aura, Susceptibility To, 10 |
|
Photophobia, Phonophobia |
OMIM:610208 |
Migraine With Or Without Aura, Susceptibility To, 11 |
|
Photophobia, Phonophobia |
OMIM:610209 |
Migraine With Or Without Aura, Susceptibility To, 2 |
|
Photophobia, Phonophobia |
OMIM:300125 |
Migraine With Or Without Aura, Susceptibility To, 3 |
|
Photophobia, Phonophobia |
OMIM:607498 |
Migraine Without Aura, Susceptibility To, 4 |
|
Photophobia, Phonophobia |
OMIM:607501 |
Migraine With Or Without Aura, Susceptibility To, 5 |
|
Photophobia, Phonophobia |
OMIM:607508 |
Chiari Malformation Type I |
|
Gait ataxia, Paresthesia, Diplopia, Hyperacusis, Unsteady gait, Photophobia |
OMIM:118420 |
Microphthalmia, Isolated 5 |
|
High hypermetropia, Photophobia, Nyctalopia, Reduced visual acuity |
OMIM:611040 |
Oculocutaneous Albinism Type 6 |
|
Photophobia, Reduced visual acuity |
ORPHA:370097 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis |
ORPHA:204 |
Migraine With Or Without Aura, Susceptibility To, 6 |
|
Photophobia, Phonophobia |
OMIM:607516 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... |
OMIM:613750 |
Irvan Syndrome |
|
Vitreous floaters, Blurred vision, Photophobia, Reduced visual acuity |
ORPHA:209943 |
Retinitis Pigmentosa 51 |
|
Reduced visual acuity, Obesity, Visual impairment, Photophobia, High myopia, Nyctalopia |
OMIM:613464 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Oculopharyngodistal Myopathy 3 |
|
Photophobia, Ataxia |
OMIM:619473 |
Thiel-Behnke Corneal Dystrophy |
|
Photophobia, Slow decrease in visual acuity |
ORPHA:98960 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Mohr-Tranebjaerg Syndrome |
|
Cerebral visual impairment, Reduced visual acuity, Constriction of peripheral visual field, Visua... |
OMIM:304700 |
Leber Congenital Amaurosis 9 |
|
Reduced visual acuity, Ultra-low vision, Photophobia, Ultra-low vision with retained light percep... |
OMIM:608553 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Mohr-Tranebjaerg Syndrome |
|
Global brain atrophy, Postlingual sensorineural hearing impairment, Sensorineural hearing impairm... |
ORPHA:52368 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Vestibulocochlear Dysfunction, Progressive |
|
Progressive hearing impairment, Tinnitus, Vestibular areflexia |
OMIM:193005 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Squamous cell carcinoma, Photophobia, Basal cell carcinoma |
ORPHA:90342 |
Idiopathic Intracranial Hypertension |
|
Diplopia, Blurred vision, Obesity, Visual loss, Scintillating scotoma, Photophobia |
ORPHA:238624 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Retinitis Pigmentosa |
|
Blindness, Progressive night blindness, Obesity, Visual impairment, Photophobia |
ORPHA:791 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Photophobia |
ORPHA:139450 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
Birdshot Chorioretinopathy |
|
Vitreous floaters, Blurred vision, Visual loss, Arcuate scotoma, Blind-spot enlargment, Photophobia |
ORPHA:179 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex |
OMIM:615147 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Corneal Dystrophy, Congenital Stromal |
|
Progressive visual loss, Photophobia |
OMIM:610048 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Neovascular Glaucoma |
|
Visual loss, Visual acuity test abnormality, Photophobia |
ORPHA:94058 |
Albinism, Oculocutaneous, Type Vii |
|
High hypermetropia, Photophobia, Reduced visual acuity |
OMIM:615179 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Foxg1 Syndrome |
|
Decreased body weight, Inability to walk, Stereotypical hand wringing, Choreoathetosis, Abnormal ... |
ORPHA:561854 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration, Vacuolated lymphocytes |
OMIM:256731 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis |
OMIM:611087 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Short stature, Retinal degeneration, Sideroblastic anemia... |
OMIM:249270 |
Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:608895 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... |
OMIM:617406 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Short stature, Macular de... |
OMIM:270200 |
Hartnup Disease |
|
Skin rash, Photophobia, Ataxia, Abnormality of vision |
ORPHA:2116 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Spinocerebellar Ataxia Type 7 |
|
Hemeralopia, Somatic sensory dysfunction, Blindness, Dysdiadochokinesis, Reduced visual acuity, A... |
ORPHA:94147 |
Leber Congenital Amaurosis 4 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Cystinosis |
|
Gait disturbance, Abnormal repetitive mannerisms, Failure to thrive, Visual impairment, Photophobia |
ORPHA:213 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Photophobia, Eczema |
OMIM:618535 |
Mucolipidosis Type Iv |
|
Photophobia, Gait disturbance, Ataxia |
ORPHA:578 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Mucolipidosis Iv |
|
Photophobia, Visual impairment |
OMIM:252650 |
Sjögren-Larsson Syndrome |
|
Myopia, Photophobia |
ORPHA:816 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Oculocutaneous Albinism Type 1 |
|
Amblyopia, Reduced visual acuity, Actinic keratosis, Neoplasm of the skin, Photophobia |
ORPHA:352731 |
Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Jalili Syndrome |
|
Monochromacy, Scotoma, Photophobia, Visual impairment, High hypermetropia, Nyctalopia |
OMIM:217080 |
Retinitis Pigmentosa 23 |
|
Mild myopia, Color vision defect, Constriction of peripheral visual field, Severely reduced visua... |
OMIM:300424 |
Vernal Keratoconjunctivitis |
|
Pruritus, Photophobia |
ORPHA:70476 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis |
ORPHA:282166 |
Amaurosis-Hypertrichosis Syndrome |
|
High hypermetropia, Photophobia, Visual impairment |
ORPHA:1021 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Visual loss, Failure to thrive, Myopia, Photophobia, Nyctalopia |
ORPHA:5 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Epiretinal membrane,... |
OMIM:616959 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Auditory sensitivity, Small for gestational age, Repetitive compulsive behavior, Eczema, Abnormal... |
ORPHA:352490 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Short stature, Retinal degeneration, Macular atrophy, Attenuation of retinal blood vessels, Growt... |
OMIM:619260 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Pancytopenia, Postnatal growth retardation |
OMIM:600546 |
Retinitis Pigmentosa 37 |
|
Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Constriction of peripheral visual ... |
OMIM:611131 |
Flotch Syndrome |
|
Photophobia, Neoplasm of the skin |
ORPHA:2045 |
Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy, Acanthocytosis |
OMIM:200100 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... |
ORPHA:364055 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Amblyopia, Abnormal repetitive mannerisms, Difficulty walking, Overweight, Waddling gait |
ORPHA:280763 |
Retinal Arteries, Tortuosity Of |
|
Visual loss, Photophobia |
OMIM:180000 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Short stature, Macular atrophy, Optic disc pallor, Intrauterine growt... |
OMIM:616171 |
Oguchi Disease |
|
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon |
ORPHA:75382 |
Jalili Syndrome |
|
Color vision defect, Photophobia, Visual impairment |
ORPHA:1873 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Reduced visual acuity, Ataxia, Dysmetria, Constriction of peripheral visual field, Photophobia |
OMIM:618527 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Alopecia-Intellectual Disability Syndrome |
|
Photophobia |
ORPHA:2850 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Photophobia, Distal sensory impairment, Steppage gait |
OMIM:256850 |
Dyskeratosis, Hereditary Benign Intraepithelial |
|
Photophobia, Visual impairment |
OMIM:127600 |
Cataract 2, Multiple Types |
|
Amblyopia, Photophobia, Visual impairment |
OMIM:604307 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Photophobia, Central scotoma, Truncal obesity, Reduced visual acuity, Nyctalopia |
OMIM:617547 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Hematological neoplasm, Photopsia, Testicular neoplasm, Cutaneous melan... |
ORPHA:71505 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Unsteady gait, Photophobia, Ataxia |
OMIM:615919 |
Retinitis Pigmentosa 72 |
|
Reduced visual acuity, Constriction of peripheral visual field, Photophobia, High myopia, Nyctalopia |
OMIM:616469 |
Tyrosinemia Type 2 |
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Visual loss, Photophobia, Ataxia |
ORPHA:28378 |
Cockayne Syndrome Type 2 |
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Gait disturbance, Ataxia, Difficulty walking, Visual impairment, Photophobia |
ORPHA:90322 |
Corneal Dystrophy, Reis-Bucklers Type |
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Photophobia, Reduced visual acuity |
OMIM:608470 |
Retinitis Pigmentosa 56 |
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Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Lyme Disease |
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Amaurosis fugax, Photophobia, Paresthesia |
ORPHA:91546 |
Albinism, Ocular, Type I |
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Photophobia, Visual impairment |
OMIM:300500 |
Spinocerebellar Ataxia 7 |
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Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
Retinitis Punctata Albescens |
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Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... |
ORPHA:52427 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Myopia, Failure to thrive, Photophobia, Erythroderma |
OMIM:242150 |
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 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
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Photophobia, Visual impairment |
ORPHA:1000 |
Chromosome 16Q12 Duplication Syndrome |
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Tritanomaly, Reduced visual acuity, Paracentral scotoma, Photophobia, High myopia, Nyctalopia |
OMIM:619649 |
Leber Congenital Amaurosis 15 |
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Hemeralopia, Reduced visual acuity, Hypermetropia, Color vision defect, Eye poking, Constriction ... |
OMIM:613843 |
Babesiosis |
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Photophobia |
ORPHA:108 |
Cone-Rod Dystrophy 10 |
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Progressive visual loss, Photophobia, Peripheral visual field loss, Nyctalopia |
OMIM:610283 |
Retinitis Pigmentosa 45 |
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Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:613767 |
Lymphedema-Distichiasis Syndrome |
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Patent ductus arteriosus, Fibrosarcoma, Webbed neck, Recurrent skin infections, Photophobia |
ORPHA:33001 |
Retinitis Pigmentosa 25 |
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Photophobia, Constriction of peripheral visual field, Nyctalopia |
OMIM:602772 |
Hsd10 Mitochondrial Disease |
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Retinal degeneration, Optic atrophy |
OMIM:300438 |
X-Linked Recessive Ocular Albinism |
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Myopia, Photophobia, Neoplasm of the skin, Visual impairment |
ORPHA:54 |
Spastic Paraplegia 11, Autosomal Recessive |
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Retinal degeneration, Macular degeneration |
OMIM:604360 |
Meningococcal Meningitis |
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Skin rash, Photophobia, Paresthesia |
ORPHA:33475 |
Xeroderma Pigmentosum, Complementation Group D |
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Choreoathetosis, Photophobia, Melanoma, Ataxia |
OMIM:278730 |
Christianson Syndrome |
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Truncal ataxia, Abnormal repetitive mannerisms, Cachexia, Gait ataxia |
ORPHA:85278 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Oculocutaneous Albinism Type 5 |
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Photophobia, Reduced visual acuity |
ORPHA:370091 |
Poretti-Boltshauser Syndrome |
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Retinal atrophy, Retinal dystrophy, Retinal thinning |
OMIM:615960 |
Bardet-Biedl Syndrome 9 |
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Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Hypotrichosis With Juvenile Macular Degeneration |
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Macular degeneration, Short stature, Abnormality of macular pigmentation |
ORPHA:1573 |
Late-Onset Retinal Degeneration |
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Peripapillary atrophy, Macular degeneration, Choroidal neovascularization, Multifocal subretinal ... |
ORPHA:67042 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Pruritus, Photophobia |
OMIM:602400 |
Cockayne Syndrome Type 3 |
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Retinal hemorrhage, Retinal atrophy, Retinal degeneration, Retinal dystrophy, Mild postnatal grow... |
ORPHA:90324 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
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Photophobia, Folliculitis |
OMIM:612843 |
Xeroderma Pigmentosum, Variant Type |
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Cutaneous melanoma, Squamous cell carcinoma, Photophobia, Basal cell carcinoma |
OMIM:278750 |
Paroxysmal Hemicrania |
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Photophobia, Phonophobia |
ORPHA:157835 |
Classic Progressive Supranuclear Palsy Syndrome |
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Gait imbalance, Falls, Akinesia, Blurred vision, Photophobia |
ORPHA:240071 |
Developmental And Epileptic Encephalopathy 28 |
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Retinal degeneration, Optic atrophy |
OMIM:616211 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
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Photophobia, Folliculitis |
OMIM:308800 |
Boutonneuse Fever |
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Skin rash, Maculopapular exanthema, Photophobia |
ORPHA:83313 |
Cone-Rod Dystrophy 8 |
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Photophobia, Blindness, Peripheral visual field loss, Nyctalopia |
OMIM:605549 |
Cone-Rod Dystrophy 6 |
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Hemeralopia, Reduced visual acuity, Progressive night blindness, Dyschromatopsia, Photophobia, Pe... |
OMIM:601777 |
Oculocutaneous Albinism Type 1B |
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Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma, Visual impairment, Photophobia |
ORPHA:79434 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Progressive visual loss, Obesity, Dyschromatopsia, Pain insensitivity, Photophobia |
ORPHA:251004 |
Infantile Krabbe Disease |
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Blindness, Cachexia, Visual loss, Failure to thrive, Hyperesthesia, Photophobia |
ORPHA:206436 |
Bilateral Acute Depigmentation Of The Iris |
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Photophobia |
ORPHA:69736 |
Retinitis Pigmentosa 60 |
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Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Cone-Rod Dystrophy And Hearing Loss 1 |
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Hemeralopia, Photophobia, Visual impairment, Dyschromatopsia |
OMIM:617236 |
Xeroderma Pigmentosum, Complementation Group E |
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Melanoma, Photophobia, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Postorgasmic Illness Syndrome |
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Blurred vision, Photophobia |
ORPHA:279947 |
Autoinflammation With Arthritis And Dyskeratosis |
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Failure to thrive, Photophobia, Laryngeal papilloma |
OMIM:617388 |
Oculocutaneous Albinism Type 4 |
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Photophobia, Neoplasm of the skin, Reduced visual acuity |
ORPHA:79435 |
Kid Syndrome |
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Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Trichilemmoma, Neopla... |
ORPHA:477 |
Bardet-Biedl Syndrome 17 |
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Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ... |
OMIM:615994 |
Autoimmune Polyendocrinopathy Type 1 |
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Photophobia, Chronic mucocutaneous candidiasis, Visual impairment |
ORPHA:3453 |
Ocular Cystinosis |
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Photophobia, Visual impairment |
ORPHA:411641 |
Corneal Dystrophy, Thiel-Behnke Type |
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Photophobia |
OMIM:602082 |
Axial Spondylometaphyseal Dysplasia |
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Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy, Short stature, Retinal dystro... |
ORPHA:168549 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
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Photophobia, High myopia |
OMIM:614457 |
Epithelial Recurrent Erosion Dystrophy |
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Progressive visual loss, Photophobia, Blurred vision |
ORPHA:293381 |
Alg6-Cdg |
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Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
Xeroderma Pigmentosum, Complementation Group C |
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Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell carcinoma, Cutaneous melanoma,... |
OMIM:278720 |
Birdshot Chorioretinopathy |
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Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
Primary Dystonia, Dyt13 Type |
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Abnormal repetitive mannerisms |
ORPHA:98807 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Photophobia, Ataxia |
ORPHA:2720 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Visual loss, Photophobia, Failure to thrive in infancy, Visual impairment |
OMIM:301220 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Retinal atrophy, Rod-cone dystrophy |
OMIM:610127 |
Cone-Rod Dystrophy 2 |
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Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... |
OMIM:120970 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Failure to thrive, Abnormal repetitive mannerisms, Ataxia, Myelodysplasia |
ORPHA:927 |
Scrub Typhus |
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Skin rash, Photophobia |
ORPHA:83317 |
Lamb-Shaffer Syndrome |
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Cerebral visual impairment, Amblyopia, Ataxia, Abnormal repetitive mannerisms |
ORPHA:530983 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Retinal degeneration, Splenomegaly, Short stature |
OMIM:615630 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
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Retinal degeneration |
OMIM:616896 |
Cockayne Syndrome Type 1 |
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Gait disturbance, Ataxia, Failure to thrive, Difficulty walking, Visual impairment, Photophobia |
ORPHA:90321 |
Idiopathic Panuveitis |
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Blindness, Reduced visual acuity, Vitreous floaters, Blurred vision, Photophobia, Abnormality of ... |
ORPHA:280921 |
Progressive Non-Fluent Aphasia |
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Astrocytosis |
ORPHA:100070 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Retinal degeneration, Optic disc pallor, Pigmentary retinopathy |
ORPHA:79264 |
Alacrima, Congenital, Autosomal Recessive |
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Photophobia |
OMIM:601549 |
Acrodermatitis Enteropathica |
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Weight loss, Pustule, Failure to thrive, Visual impairment, Photophobia |
ORPHA:37 |
Trichothiodystrophy 1, Photosensitive |
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Small for gestational age, Squamous cell carcinoma, Basal cell carcinoma, Erythroderma, Photophobia |
OMIM:601675 |
Hereditary Mucoepithelial Dysplasia |
|
Photophobia |
ORPHA:1839 |
Arnold-Chiari Malformation Type I |
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Gait ataxia, Somatic sensory dysfunction, Diplopia, Dysesthesia, Progressive cerebellar ataxia, P... |
ORPHA:268882 |
Lattice Corneal Dystrophy Type I |
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Visual loss, Photophobia, High myopia, Slow decrease in visual acuity |
ORPHA:98964 |
Acute Zonal Occult Outer Retinopathy |
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Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
Scheie Syndrome |
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Retinal degeneration |
OMIM:607016 |
Chediak-Higashi Syndrome |
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Recurrent bacterial skin infections, Reduced visual acuity, Gait disturbance, Ataxia, Photophobia |
OMIM:214500 |
Oculocutaneous Albinism Type 1A |
|
Photophobia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Visual impairment |
ORPHA:79431 |
Xeroderma Pigmentosum |
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Papilloma, Thin skin, Neoplasm of the eye, Melanoma, Ataxia, Failure to thrive, Neoplasm, Photoph... |
ORPHA:910 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Retinal degeneration, Short stature, Optic atrophy |
ORPHA:442835 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy, Acanthocytosis |
OMIM:615558 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Photophobia, Weight loss |
ORPHA:92050 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Blindness, Inability to walk, Gait disturbance, Ataxia, Abnormal repetitive mannerisms, Visual lo... |
ORPHA:168491 |
Aceruloplasminemia |
|
Retinal degeneration, Anemia |
OMIM:604290 |
Achromatopsia 2 |
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Hemeralopia, Reduced visual acuity, Achromatopsia, Photophobia, Nyctalopia |
OMIM:216900 |
Sunct Syndrome |
|
Photophobia |
ORPHA:57145 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Cerebral visual impairment, Inability to walk, Abnormal repetitive mannerisms |
ORPHA:411986 |
Intellectual Disability, Buenos-Aires Type |
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Photophobia, Spastic gait |
ORPHA:3079 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Squamous cell carcinoma, Photophobia, Blindness |
OMIM:148210 |
48,Xxyy Syndrome |
|
Lymphoma, Abnormal repetitive mannerisms, Obesity, Ataxia |
ORPHA:10 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Blurred vision, Photophobia, Phonophobia |
ORPHA:284388 |
Granular Corneal Dystrophy Type I |
|
Reduced visual acuity, Photophobia, Visual impairment |
ORPHA:98962 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Alstrom Syndrome |
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Blindness, Visual loss, Constriction of peripheral visual field, Truncal obesity, Photophobia |
OMIM:203800 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Leukonychia Totalis |
|