Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Facial Paresis, Hereditary Congenital, 2 |
|
Facial palsy, Hearing impairment |
OMIM:604185 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
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 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
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 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
Macular Dystrophy, Patterned, 1 |
|
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:169150 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... |
OMIM:618977 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Central scotoma, Photophobia, Visual impairment |
OMIM:615163 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... |
OMIM:602093 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... |
OMIM:180020 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... |
OMIM:616517 |
Prolonged Electroretinal Response Suppression 2 |
|
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... |
OMIM:620344 |
Optic Atrophy 6 |
|
Photophobia, Red-green dyschromatopsia, Optic atrophy, Visual impairment |
OMIM:258500 |
Tritanopia |
|
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... |
ORPHA:88629 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... |
OMIM:608194 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,... |
OMIM:610381 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... |
ORPHA:179 |
Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... |
OMIM:613093 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Blue Cone Monochromacy |
|
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... |
OMIM:303700 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... |
OMIM:600852 |
Progressive Cone Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect |
ORPHA:1871 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... |
OMIM:617879 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... |
OMIM:616079 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Photophobia, Visual impairment, Attenuation of retinal... |
OMIM:614504 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Choroidal Dystrophy, Central Areolar 2 |
|
Photophobia, Chorioretinal atrophy |
OMIM:613105 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
Blue Cone Monochromatism |
|
Blue cone monochromacy, Abnormality of retinal pigmentation, Photophobia, Visual impairment |
ORPHA:16 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... |
OMIM:610478 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... |
OMIM:616732 |
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis |
|
Photophobia, Retinal dystrophy, Visual impairment |
OMIM:204110 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:204100 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia |
ORPHA:94124 |
Cone-Rod Synaptic Disorder, Congenital Nonprogressive |
|
Congenital stationary night blindness, Photophobia, Visual impairment, Color vision defect |
OMIM:610427 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia |
OMIM:607250 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
Achromatopsia 4 |
|
Photophobia, Achromatopsia, Visual impairment |
OMIM:613856 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision |
OMIM:204870 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... |
OMIM:614186 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment |
OMIM:113750 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness, Phonophobia |
OMIM:609634 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... |
OMIM:613341 |
Bradyopsia |
|
Photophobia, Visual impairment |
ORPHA:75374 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Hyperorality, Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis |
OMIM:600795 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Reduced visual acuity, Photophob... |
ORPHA:330058 |
Albinism, Oculocutaneous, Type V |
|
Hypoplasia of the fovea, Photophobia |
OMIM:615312 |
Oculocutaneous Albinism Type 6 |
|
Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho... |
ORPHA:370097 |
Albinism, Oculocutaneous, Type Ib |
|
Photophobia, Visual impairment, Hypopigmentation of the fundus |
OMIM:606952 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment |
ORPHA:75858 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity |
OMIM:618970 |
Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Photophobia, Visual impairment, Depigmented fundus |
OMIM:300650 |
Leber Congenital Amaurosis 1 |
|
Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig... |
OMIM:204000 |
Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
Cone-Rod Dystrophy And Hearing Loss 2 |
|
Photophobia, Reduced visual acuity |
OMIM:618358 |
Macular Dystrophy, Corneal |
|
Photophobia, Macular dystrophy |
OMIM:217800 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... |
ORPHA:94058 |
Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity |
OMIM:619165 |
Sporadic Creutzfeldt-Jakob Disease |
|
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Visual impairment |
ORPHA:204 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Retinal telangiectasia, Photophobia, Neoplasm, Neurodegeneration |
ORPHA:438134 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Progressive cer... |
OMIM:277460 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... |
OMIM:613464 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Leber Congenital Amaurosis 6 |
|
Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuation of retinal blood ves... |
OMIM:613826 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Red Skin Pigment Anomaly Of New Guinea |
|
Photophobia |
OMIM:266350 |
Corneal Dystrophy, Fleck |
|
Photophobia |
OMIM:121850 |
Achromatopsia 3 |
|
Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe... |
OMIM:262300 |
Keratoendotheliitis Fugax Hereditaria |
|
Epiretinal membrane, Photophobia, Blurred vision |
OMIM:148200 |
Oligocone Trichromacy |
|
Photophobia |
ORPHA:75378 |
Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Hyperorality, Astrocytosis |
ORPHA:275864 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... |
OMIM:300424 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Diplopia, Reduced visual acuity, Photophobia, Phonophobia |
ORPHA:209967 |
Epithelial Recurrent Erosion Dystrophy |
|
Photophobia, Visual impairment |
OMIM:122400 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... |
OMIM:208920 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... |
OMIM:270200 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Squamous cell carc... |
OMIM:278760 |
Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Central nervous system degeneration, Abnormality of vision, Abnormal autonomic nerv... |
ORPHA:282166 |
Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Optic atrophy, Atrophy/Degeneration involving the caudate nucleus, Astrocy... |
ORPHA:225154 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Glaucoma 3, Primary Congenital, D |
|
Photophobia |
OMIM:613086 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Retinal dystrophy, Optic atrophy, Photophobia, High hypermetropia, Visua... |
ORPHA:1021 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Corneal Dystrophy, Meesmann, 1 |
|
Photophobia, Reduced visual acuity |
OMIM:122100 |
Retinal Arteries, Tortuosity Of |
|
Retinal arteriolar tortuosity, Visual loss, Photophobia, Retinal hemorrhage |
OMIM:180000 |
Cancer-Associated Retinopathy |
|
Vitritis, Photophobia, Prostate cancer, Neoplasm of the breast, Pancreatic adenocarcinoma, Retina... |
ORPHA:71505 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... |
ORPHA:791 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Leber Congenital Amaurosis 7 |
|
Photophobia, Visual impairment |
OMIM:613829 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... |
ORPHA:52427 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Photophobia, Visual impairment, Color vision ... |
ORPHA:1873 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Photophobia, Retinal degeneration, Visual impairment |
OMIM:252650 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Spinocerebellar atrophy, Photopho... |
OMIM:215470 |
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 |
Corneal Dystrophy, Meesmann, 2 |
|
Photophobia |
OMIM:618767 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Sjögren-Larsson Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy |
ORPHA:816 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... |
ORPHA:352731 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit... |
OMIM:304700 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Migraine With Or Without Aura, Susceptibility To, 6 |
|
Photophobia, Phonophobia |
OMIM:607516 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Scintillating scotoma, Diplopia, Visual loss, Photophobia, Blurred vision |
ORPHA:238624 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... |
OMIM:613843 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Thiel-Behnke Corneal Dystrophy |
|
Photophobia, Slow decrease in visual acuity |
ORPHA:98960 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... |
OMIM:619649 |
Xeroderma Pigmentosum Variant |
|
Photophobia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Posterior Cortical Atrophy |
|
Abnormality of vision, Photophobia, Color vision defect, Cerebral visual impairment |
ORPHA:54247 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Brain neoplasm, Temporal cortical atrophy, Astrocytosis, ... |
ORPHA:100070 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage, Photophobia, Melanoma, Basal cell carcin... |
OMIM:278740 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Photophobia |
ORPHA:139450 |
Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Photophobia, Diplopia, Phonophobia |
OMIM:612656 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot... |
ORPHA:370091 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Photophobia, Eczema |
OMIM:618535 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis |
OMIM:611087 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... |
ORPHA:52368 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia |
OMIM:300500 |
Vernal Keratoconjunctivitis |
|
Pruritus, Photophobia |
ORPHA:70476 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... |
ORPHA:5 |
Albinism, Oculocutaneous, Type Vii |
|
Photophobia, High hypermetropia, Reduced visual acuity |
OMIM:615179 |
Corneal Dystrophy, Congenital Stromal |
|
Photophobia, Progressive visual loss |
OMIM:610048 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... |
OMIM:216900 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment |
OMIM:617236 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu... |
ORPHA:79435 |
Oculopharyngodistal Myopathy 3 |
|
Photophobia, Pigmentary retinopathy |
OMIM:619473 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage, Photophobia, Basal cell carcinoma, Squam... |
OMIM:278720 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia, Neoplasm, Visual impairment |
OMIM:310465 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Myopia, Ocular albinism, Photophobia, Neoplasm of the skin, Visual impai... |
ORPHA:54 |
Idiopathic Panuveitis |
|
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... |
ORPHA:280921 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Abnormal dense gr... |
OMIM:214500 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Photophobia, Basal cell carcinoma, ... |
ORPHA:79434 |
Supranuclear Palsy, Progressive, 1 |
|
Diplopia, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Photophobia, Gliosis, Sen... |
OMIM:601104 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Babesiosis |
|
Hemolytic anemia, Splenomegaly, Photophobia, Leukopenia, Thrombocytopenia |
ORPHA:108 |
Cog4-Cdg |
|
Hypercholesterolemia, Ataxia |
ORPHA:263501 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... |
OMIM:615558 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Photophobia, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Photophobia, Ocular albinism, Visual impairment |
ORPHA:1000 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Flotch Syndrome |
|
Photophobia, Neoplasm of the skin |
ORPHA:2045 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent skin infections, Patent ductus arteriosus, Photophobia, Webbed neck, Fibrosarcoma |
ORPHA:33001 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Alopecia-Intellectual Disability Syndrome |
|
Photophobia |
ORPHA:2850 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... |
ORPHA:168549 |
Hermansky-Pudlak Syndrome 6 |
|
Amblyopia, Ocular albinism, Absent foveal reflex, Reduced visual acuity, Photophobia, Macular hyp... |
OMIM:614075 |
Cataract 2, Multiple Types |
|
Photophobia, Visual impairment, Amblyopia |
OMIM:604307 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Photophobia |
OMIM:602400 |
Dyskeratosis, Hereditary Benign Intraepithelial |
|
Photophobia, Visual impairment |
OMIM:127600 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Photophobia, Basal cell carcinoma, Abnormal optic nerve... |
ORPHA:79431 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu... |
ORPHA:263479 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Photophobia, Myopia, Cerebral atrophy, Erythroderma |
OMIM:242150 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... |
OMIM:619260 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Photophobia, Folliculitis |
OMIM:612843 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Myopia, Eczema, Retinal degeneration, Increased mean corpusc... |
ORPHA:33364 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Photophobia, Reduced visual acuity |
OMIM:608470 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Photophobia, Folliculitis |
OMIM:308800 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Photophobia, Neutropenia, Abnormal natural killer cell morphology, Hepato... |
ORPHA:167 |
Meningococcal Meningitis |
|
Photophobia, Papilledema, Skin rash |
ORPHA:33475 |
Hartnup Disease |
|
Abnormality of vision, Photophobia, Skin rash |
ORPHA:2116 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Splenomegaly, Retinal hemorrhage, Hypermet... |
ORPHA:90324 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Photophobia, Brain atrophy, High myopia |
OMIM:614457 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Mucolipidosis Type Iv |
|
Photophobia, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Reduced platelet dense granules,... |
OMIM:619172 |
Scrub Typhus |
|
Photophobia, Splenomegaly, Skin rash |
ORPHA:83317 |
Xeroderma Pigmentosum, Complementation Group D |
|
Photophobia, Melanoma, Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Photophobia, Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Photophobia, Facial palsy |
OMIM:256850 |
Cystinosis, Adult Nonnephropathic |
|
Photophobia, Abnormal retinal morphology |
OMIM:219750 |
Autoimmune Polyendocrinopathy Type 1 |
|
Photophobia, Visual impairment, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu... |
OMIM:600901 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Splenomegaly, Ocular albinism, Reduced ... |
OMIM:608233 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Photophobia, Reduced visual acuity, Blurred vision |
ORPHA:98957 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Reduced visual acuity, Photophobia,... |
ORPHA:79432 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Cerebral visual impairment, Visual loss, Cerebral cortical neurodegeneration,... |
OMIM:203700 |
Chiari Malformation Type I |
|
Photophobia, Diplopia, Hyperacusis |
OMIM:118420 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Photophobia, Laryngeal papilloma |
OMIM:617388 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Photophobia, Abnormal retinal morphology on macular OCT, Dyschromatopsia, Progressive visual loss... |
ORPHA:251004 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance |
ORPHA:819 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu... |
OMIM:227650 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Paroxysmal Hemicrania |
|
Photophobia, Phonophobia |
ORPHA:157835 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Cereb... |
ORPHA:94147 |
Xeroderma Pigmentosum, Variant Type |
|
Photophobia, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Photophobia, Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:618527 |
Kleine-Levin Syndrome |
|
Photophobia, Blurred vision |
ORPHA:33543 |
Rift Valley Fever |
|
Skin rash, Retinitis, Scotoma, Retinal hemorrhage, Reduced visual acuity, Macular edema, Anemia, ... |
ORPHA:319251 |
Postorgasmic Illness Syndrome |
|
Photophobia, Blurred vision |
ORPHA:279947 |
Bilateral Acute Depigmentation Of The Iris |
|
Photophobia |
ORPHA:69736 |
Ocular Cystinosis |
|
Photophobia, Visual impairment |
ORPHA:411641 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Ataxia |
OMIM:249310 |
Epithelial Recurrent Erosion Dystrophy |
|
Photophobia, Progressive visual loss, Blurred vision |
ORPHA:293381 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased ne... |
ORPHA:206436 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Photophobia |
OMIM:602082 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu... |
OMIM:227645 |
Xfe Progeroid Syndrome |
|
Blindness, Optic atrophy, Defective DNA repair after ultraviolet radiation damage, Visual impairm... |
OMIM:610965 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Ataxia |
ORPHA:2479 |
Cystinosis |
|
Photophobia, Retinopathy, Visual impairment |
ORPHA:213 |
Posterior Polymorphous Corneal Dystrophy |
|
Very low visual acuity, Chorioretinal degeneration, Amblyopia, Reduced visual acuity, Photophobia... |
ORPHA:98973 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pontocerebellar atrophy, Facial palsy, Astrocytosis |
ORPHA:258 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Photophobia, Recurrent bacterial skin infections, Blindness, Squamous cell carcinoma |
OMIM:148210 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Photophobia, Ocular albinism, Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Photophobia, Visual impa... |
OMIM:203100 |
Alacrima, Congenital, Autosomal Recessive |
|
Photophobia |
OMIM:601549 |
Lattice Corneal Dystrophy Type I |
|
Photophobia, Visual loss, High myopia, Slow decrease in visual acuity |
ORPHA:98964 |
Pituitary Apoplexy |
|
Bitemporal hemianopia, Abnormal static automated perimetry test, Diplopia, Pituitary adenoma, Red... |
ORPHA:95613 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph... |
OMIM:203800 |
Supranuclear Palsy, Progressive, 2 |
|
Diplopia, Granulovacuolar degeneration, Photophobia, Gliosis, Neuronal loss in central nervous sy... |
OMIM:609454 |
De Sanctis-Cacchione Syndrome |
|
Axonal degeneration, Optic atrophy, Defective DNA repair after ultraviolet radiation damage, Cere... |
OMIM:278800 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Hereditary Mucoepithelial Dysplasia |
|
Photophobia |
ORPHA:1839 |
Trichothiodystrophy 1, Photosensitive |
|
Photophobia, Basal cell carcinoma, Squamous cell carcinoma, Erythroderma |
OMIM:601675 |
Acrodermatitis Enteropathica |
|
Pustule, Photophobia, Cerebral cortical atrophy, Visual impairment |
ORPHA:37 |
Lyme Disease |
|
Photophobia, Amaurosis fugax |
ORPHA:91546 |
Hermansky-Pudlak Syndrome |
|
Myopia, Amblyopia, Ocular albinism, Photophobia, Basal cell carcinoma, Abnormal optic nerve morph... |
ORPHA:79430 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus, Reti... |
OMIM:227646 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... |
OMIM:278700 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Ermine Phenotype |
|
Photophobia, Ocular albinism |
ORPHA:999 |
Lujo Hemorrhagic Fever |
|
Skin rash, Maculopapular exanthema, Leukocytosis, Photophobia, Leukopenia, Lymphopenia, Thrombocy... |
ORPHA:319213 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Unusual skin infection, Blindness, Facial palsy, Pustule, Visual loss, Diplo... |
ORPHA:68 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Photophobia, Phonophobia, Blurred vision |
ORPHA:284388 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Anemia, Pigmentary retinopathy, Photophobia, ... |
ORPHA:90321 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia, Astrocytosis |
ORPHA:309854 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Sunct Syndrome |
|
Photophobia |
ORPHA:57145 |
Mucoepithelial Dysplasia, Hereditary |
|
Photophobia, Blindness, Eosinophilia, Chronic mucocutaneous candidiasis |
OMIM:158310 |
Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision |
ORPHA:566 |
Xeroderma Pigmentosum |
|
Optic atrophy, Photophobia, Melanoma, Neoplasm, Thin skin, Papilloma, Neoplasm of the eye, Cerebr... |
ORPHA:910 |
Granular Corneal Dystrophy Type I |
|
Photophobia, Reduced visual acuity, Visual impairment |
ORPHA:98962 |
Cockayne Syndrome Type 2 |
|
Photophobia, Visual impairment |
ORPHA:90322 |
Coccidioidomycosis |
|
Skin rash, Abscess, Eosinophilia, Abnormal retinal morphology, Pruritus, Erythema nodosum, Abnorm... |
ORPHA:228123 |
Lymphedema-Distichiasis Syndrome |
|
Photophobia, Patent ductus arteriosus, Webbed neck |
OMIM:153400 |
Leukonychia Totalis |
|
Photophobia, Adenoma sebaceum |
ORPHA:2387 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Photophobia, Neurodegeneration |
OMIM:615919 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Skin rash, Facial palsy, Erythema nodosum, Splenomegaly, Retrobu... |
ORPHA:90340 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Cockayne Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... |
ORPHA:191 |
Congenital Tufting Enteropathy |
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Photophobia, Optic disc coloboma |
ORPHA:92050 |
Hermansky-Pudlak Syndrome 1 |
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Photophobia, Severely reduced visual acuity, Ocular albinism, Blindness |
OMIM:203300 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Ifap Syndrome 2 |
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Photophobia |
OMIM:619016 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Recurrent skin infections, Hypermetropia, Photophobia, Squamous cell carcinoma of the skin, Anemia |
ORPHA:79396 |
Clouston Syndrome |
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Photophobia |
OMIM:129500 |
Miller Fisher Syndrome |
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Photophobia, Diplopia, Facial palsy, Blurred vision |
ORPHA:98919 |
Limbal Stem Cell Deficiency |
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Photophobia, Reduced visual acuity |
ORPHA:171673 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia |
ORPHA:69663 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Photophobia, Visual loss, Visual impairment |
OMIM:301220 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Sympathetic Ophthalmia |
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Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ... |
ORPHA:79098 |
Mucopolysaccharidosis, Type Vii |
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Photophobia, Splenomegaly, Neurodegeneration, Visual impairment |
OMIM:253220 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Arnold-Chiari Malformation Type I |
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Cranial nerve compression, Diplopia, Abnormality of the vestibulocochlear nerve, Abnormality of t... |
ORPHA:268882 |
Classic Progressive Supranuclear Palsy Syndrome |
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Photophobia, Blurred vision |
ORPHA:240071 |
Intellectual Disability, Buenos-Aires Type |
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Photophobia |
ORPHA:3079 |
Tick-Borne Encephalitis |
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Facial palsy, Leukocytosis, Photophobia, Leukopenia, Abnormal glossopharyngeal nerve morphology, ... |
ORPHA:297 |
Cogan Syndrome |
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Blindness, Leukocytosis, Reduced visual acuity, Photophobia, Thrombocytosis, Anemia |
ORPHA:1467 |
Tyrosinemia Type 2 |
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Photophobia, Visual loss |
ORPHA:28378 |
Macular Corneal Dystrophy |
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Photophobia, Severely reduced visual acuity |
ORPHA:98969 |
Tooth Agenesis, Selective, 4 |
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Photophobia, Thin skin |
OMIM:150400 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Skin rash, Choroidal neovasc... |
ORPHA:91500 |
Lysinuric Protein Intolerance |
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Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Phacoanaphylactic Uveitis |
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Visual loss, Vitritis, Abnormal vitreous humor morphology, Retinal arteritis, Macular edema, Phot... |
ORPHA:209959 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Encephalitis Lethargica |
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Photophobia, Diplopia |
ORPHA:83600 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Stevens-Johnson Syndrome |
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Abnormality of neutrophils, Thrombocytopenia, Photophobia, Visual impairment, Anemia |
ORPHA:36426 |
Chikungunya |
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Skin rash, Maculopapular exanthema, Pruritus, Erythema nodosum, Crusting erythematous dermatitis,... |
ORPHA:324625 |
Gapo Syndrome |
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Retinal arteriolar tortuosity, Photophobia, Optic atrophy, Facial palsy |
OMIM:230740 |
Toxic Epidermal Necrolysis |
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Visual loss, Photophobia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:537 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Corneodermatoosseous Syndrome |
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Photophobia, Nyctalopia, Hemeralopia |
ORPHA:3194 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
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Cerebellar atrophy, Optic atrophy, Hypermetropia, Photophobia, Chorioretinal coloboma |
OMIM:210730 |
Amoebic Keratitis |
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Photophobia, Abnormal posterior eye segment morphology |
ORPHA:67043 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Behçet Disease |
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Blindness, Acne, Splenomegaly, Retrobulbar optic neuritis, Photophobia, Optic neuritis, Retinopathy |
ORPHA:117 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Immunodeficiency 47 |
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Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Cerebrotendinous Xanthomatosis |
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Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
Reactive Arthritis |
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Pustule, Photophobia |
ORPHA:29207 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Neutrophilia, Erythema nodosum, Splenomegaly, Leukocytosis, Retinal hemorrhage, Pho... |
ORPHA:99827 |
Cystinosis, Nephropathic |
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Blindness, Splenomegaly, Retinal pigment epithelial mottling, Reduced visual acuity, Cerebral atr... |
OMIM:219800 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
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Photophobia |
OMIM:609944 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Infantile Nephropathic Cystinosis |
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Photophobia, Pigmentary retinopathy |
ORPHA:411629 |
Eec Syndrome |
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Photophobia, Lymphoma, Hypoplasia of the thymus |
ORPHA:1896 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Photophobia |
OMIM:122000 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypercholesterolemia |
OMIM:606721 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Inflammatory abnormality of the skin, Blindness, Skin rash, Visual loss, Renal tubular epithelial... |
ORPHA:95455 |
Cockayne Syndrome A |
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Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... |
OMIM:216400 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Alacrima, Congenital, Autosomal Dominant |
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Photophobia |
OMIM:103420 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Optic neuropathy, Splenomegaly, Photophobia, Chorioretinitis, Blurred vision |
OMIM:181000 |
Odontoonychodermal Dysplasia |
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Photophobia |
OMIM:257980 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Steinert Myotonic Dystrophy |
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Falls, Inability to walk, Gait disturbance, Hypercholesterolemia |
ORPHA:273 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Myopia, Aganglionic megacolon, Eczema, Photophobia, Subcortical cerebral atrophy, Cerebral cortic... |
ORPHA:2273 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Photophobia, Thin skin |
OMIM:129900 |
Isolated Congenital Alacrima |
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Photophobia |
ORPHA:91416 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Juvenile Nephropathic Cystinosis |
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Photophobia |
ORPHA:411634 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Aganglionic megacolon, Recurrent skin infections, Eczema, Photophobia, Brain atrophy, Erythroderma |
OMIM:308205 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Photophobia |
ORPHA:1010 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Photophobia |
OMIM:604292 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Chronic Graft Versus Host Disease |
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Photophobia, Pancytopenia |
ORPHA:99921 |
Alström Syndrome |
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Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina... |
ORPHA:64 |
Uv-Sensitive Syndrome 2 |
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Abnormal circulating porphyrin concentration |
OMIM:614621 |