Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... |
ORPHA:280397 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Dystonia 31 |
|
Leg dystonia, Craniofacial dystonia, Writer's cramp, Abnormal posturing, Arm dystonia, Generalize... |
OMIM:619565 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, EEG abnormality, Blindness, Visual loss |
OMIM:610951 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Nystagmus 2, Congenital, Autosomal Dominant |
|
Reduced visual acuity, Visual impairment, Mildly reduced visual acuity |
OMIM:164100 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Dementia |
OMIM:615483 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... |
ORPHA:412066 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Dysphagia, Blindness, Chorea |
OMIM:607674 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Progressive visual field defects, Ataxia, Dysmetria, EEG with generalized slow activity grade 4, ... |
ORPHA:79263 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Macular Dystrophy, Vitelliform, 5 |
|
Reduced visual acuity, Central scotoma, Moderately reduced visual acuity |
OMIM:616152 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Chorea, Tremor, Limb dystonia, Focal dystonia, Dysphagia, Blindness |
ORPHA:216873 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Blindness |
OMIM:613830 |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 |
|
Congenital stationary night blindness, Blindness |
OMIM:610444 |
Late-Onset Retinal Degeneration |
|
Scotoma, Blindness, Adult-onset night blindness, Visual loss |
OMIM:605670 |
Macular Dystrophy With Central Cone Involvement |
|
Reduced visual acuity, Central scotoma, Visual impairment |
OMIM:616170 |
Retinitis Pigmentosa 80 |
|
Progressive visual loss, Blindness |
OMIM:617781 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced visual acuity, Blindness |
OMIM:601553 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Dysmetria, Truncal ataxia, Visual loss, Visual impairment, Gait ataxia, Dysphagia, Progre... |
OMIM:601338 |
Bietti Crystalline Dystrophy |
|
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Visual impairment, Cent... |
ORPHA:41751 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Intention tremor, Reduced visual acuity, Color vision defect... |
ORPHA:98890 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature |
OMIM:618160 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... |
ORPHA:168782 |
Huntington Disease-Like 2 |
|
Apathy, Depression, Anxiety, Irritability, Dementia |
OMIM:606438 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Progressive visual loss, Ataxia, EEG abnormality, Blindness |
OMIM:256730 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Severely reduced visual acuity |
OMIM:309555 |
Night Blindness, Congenital Stationary, Type 1E |
|
Reduced visual acuity, Congenital stationary night blindness, Visual impairment, Myopia |
OMIM:614565 |
Cataract 11, Multiple Types |
|
Blindness, Chorea |
OMIM:610623 |
Leukodystrophy, Hypomyelinating, 14 |
|
Blindness, Dystonia |
OMIM:617899 |
Usher Syndrome, Type Iid |
|
Blindness |
OMIM:611383 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness |
OMIM:610612 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Retinitis Pigmentosa 29 |
|
Blindness |
OMIM:612165 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
Newfoundland Rod-Cone Dystrophy |
|
Color vision defect, Scotoma, Visual impairment, Nyctalopia |
OMIM:607476 |
Optic Pathway Glioma |
|
Visual field defect, Reduced visual acuity, Fatigable weakness, Visual loss, Blindness |
ORPHA:2086 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Scotoma, Reduced visual acuity |
OMIM:165300 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Blindness |
OMIM:551500 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Photophobia, Nyctalopia, Color vision defect, Reduced visual acuity, Visual impairment, Myopia |
OMIM:304020 |
Fleck Retina, Familial Benign |
|
Blindness |
OMIM:228980 |
Sorsby Fundus Dystrophy |
|
Blindness |
OMIM:136900 |
Retinitis Pigmentosa 78 |
|
Visual field defect, Reduced visual acuity, Nyctalopia, Photopsia |
OMIM:617433 |
Choroideremia |
|
Nyctalopia, Visual impairment, Progressive visual loss, Abnormality of vision, Myopia |
ORPHA:180 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness |
OMIM:302700 |
Myopia 22, Autosomal Dominant |
|
Reduced visual acuity, Visual impairment, Myopia |
OMIM:615420 |
Congenital Stationary Night Blindness |
|
Hypermetropia, Congenital stationary night blindness with normal fundus, Nyctalopia, Color vision... |
ORPHA:215 |
Macular Dystrophy, Retinal, 3 |
|
Color vision defect, Reduced visual acuity, Central scotoma |
OMIM:608850 |
Temporal Arteritis |
|
Blindness |
OMIM:187360 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Nyctalopia, Visual loss, Blindness, Large central visual field defect, Severely reduced visual ac... |
ORPHA:59181 |
Cone-Rod Dystrophy 12 |
|
Color vision defect, Reduced visual acuity, Central scotoma, Nyctalopia |
OMIM:612657 |
Macular Dystrophy, Vitelliform, 1 |
|
Visual field defect, Visual impairment, Reduced visual acuity |
OMIM:153840 |
Central Areolar Choroidal Dystrophy |
|
Slow decrease in visual acuity, Nyctalopia, Reduced visual acuity, Visual loss, Visual impairment... |
ORPHA:75377 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness |
OMIM:268010 |
Retinal Capillary Malformation |
|
Reduced visual acuity, Blurred vision, Amblyopia, Paracentral scotoma, Photopsia, Vitreous floate... |
ORPHA:71213 |
Retinitis Pigmentosa 4 |
|
Visual field defect, Blindness, Nyctalopia |
OMIM:613731 |
Optic Atrophy 1 |
|
Centrocecal scotoma, Ataxia, Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Centr... |
OMIM:165500 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Retinitis Pigmentosa 27 |
|
Visual impairment, Blindness, Nyctalopia |
OMIM:613750 |
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Photophobia, Ataxia, Color vision defect, Reduced visual acuity, Blind-spot enlargment, Central s... |
OMIM:616732 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness |
OMIM:609634 |
Sandhoff Disease |
|
Ataxia, Blindness |
ORPHA:796 |
Fleck Retina Of Kandori |
|
Blindness, Nyctalopia |
OMIM:228990 |
Retinoschisis Of Fovea |
|
Hypermetropia, Mildly reduced visual acuity, Nyctalopia, Visual loss |
OMIM:268080 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia |
OMIM:616079 |
Retinitis Pigmentosa 35 |
|
Blindness, Nyctalopia |
OMIM:610282 |
Leber Congenital Amaurosis 4 |
|
Reduced visual acuity, Blindness, Nyctalopia |
OMIM:604393 |
Retinitis Pigmentosa 20 |
|
Visual impairment, Nyctalopia, Severely reduced visual acuity |
OMIM:613794 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Blindness, Ataxia, Acrop... |
ORPHA:206443 |
Retinitis Pigmentosa 11 |
|
Reduced visual acuity, Blindness, Nyctalopia, Constriction of peripheral visual field |
OMIM:600138 |
Cone Rod Dystrophy |
|
Photophobia, Visual impairment, Nyctalopia, Color vision defect |
ORPHA:1872 |
Persistent Placoid Maculopathy |
|
Reduced visual acuity, Metamorphopsia, Scintillating scotoma, Amblyopia |
ORPHA:97341 |
Bothnia Retinal Dystrophy |
|
Visual field defect, Ring scotoma, Nyctalopia, Color vision defect, Central scotoma, Paracentral ... |
ORPHA:85128 |
Cavitary Optic Disc Anomalies |
|
Visual field defect, Reduced visual acuity, Nyctalopia |
OMIM:611543 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ataxia, Ring scotoma, Decreased sensory nerve conduction velocity, Nyctalopia, Impaired vibration... |
OMIM:609033 |
Usher Syndrome, Type Iiia |
|
Visual field defect, Reduced visual acuity, Nyctalopia |
OMIM:276902 |
Retinitis Pigmentosa 18 |
|
Progressive visual field defects, Scotoma, Nyctalopia |
OMIM:601414 |
Usher Syndrome Type 3 |
|
Ataxia, High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Scotoma |
ORPHA:231183 |
Leber Congenital Amaurosis 16 |
|
Photophobia, Reduced visual acuity, Visual impairment, Nyctalopia |
OMIM:614186 |
Mohr-Tranebjaerg Syndrome |
|
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Tremor, Cerebral vis... |
OMIM:304700 |
Leber Congenital Amaurosis 2 |
|
Photophobia, Reduced visual acuity, Blindness, Nyctalopia |
OMIM:204100 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Progressive visual loss, Blindness, Reduced visual acuity |
OMIM:204200 |
Usher Syndrome Type 1 |
|
Ataxia, High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Scotoma |
ORPHA:231169 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Nyctalopia, Hand tremor, Impaired vibratory sensation, Distal sensory impairment, Somatic sensory... |
ORPHA:99947 |
Optic Atrophy 9 |
|
Red-green dyschromatopsia, Reduced visual acuity, Visual impairment, Paracentral scotoma |
OMIM:616289 |
Cone-Rod Dystrophy 15 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field, Color vision defect, Progressiv... |
OMIM:613660 |
Night Blindness, Congenital Stationary, Type 1H |
|
Photophobia, Hypermetropia, Mild myopia, Nyctalopia |
OMIM:617024 |
Retinitis Pigmentosa 3 |
|
Photophobia, Ring scotoma, Nyctalopia, Constriction of peripheral visual field, Color vision defe... |
OMIM:300029 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Centrocecal scotoma, Ataxia, Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Centr... |
OMIM:125250 |
Alpers-Huttenlocher Syndrome |
|
Blindness, Choreoathetosis, Abnormality of vision, Ataxia |
ORPHA:726 |
Blue Cone Monochromacy |
|
Photophobia, Blue cone monochromacy, Reduced visual acuity, Visual impairment, Myopia |
OMIM:303700 |
Retinitis Pigmentosa 1 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Scotoma, Myopia |
OMIM:180100 |
Retinitis Pigmentosa 92 |
|
Visual impairment, Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field |
OMIM:619614 |
Macular Dystrophy, Retinal, 4 |
|
Reduced visual acuity, Nyctalopia |
OMIM:619977 |
Retinitis Pigmentosa 85 |
|
Reduced visual acuity, Progressive night blindness |
OMIM:618345 |
Cone Dystrophy 4 |
|
Photophobia, Reduced visual acuity, Visual impairment, Dyschromatopsia |
OMIM:613093 |
Night Blindness, Congenital Stationary, Type1I |
|
Nyctalopia, Tritanomaly |
OMIM:618555 |
Cone-Rod Dystrophy 21 |
|
Photophobia, Reduced visual acuity, Nyctalopia |
OMIM:616502 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Photophobia, Reduced visual acuity, Blurred vision, Visual impairment |
OMIM:204870 |
Leber Congenital Amaurosis 1 |
|
Photophobia, Reduced visual acuity, Blindness, Nyctalopia |
OMIM:204000 |
Cone-Rod Dystrophy 2 |
|
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, ... |
OMIM:120970 |
Leber Congenital Amaurosis 14 |
|
Photophobia, Reduced visual acuity, Nyctalopia, Congenital blindness |
OMIM:613341 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Blindness, Nyctalopia |
OMIM:180210 |
Cone-Rod Dystrophy 20 |
|
Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, Central scot... |
OMIM:615973 |
Narp Syndrome |
|
Ataxia, Blindness, Constriction of peripheral visual field, Progressive gait ataxia, Abnormal vis... |
ORPHA:644 |
Leber Congenital Amaurosis 3 |
|
Nyctalopia, Visual loss, Constriction of peripheral visual field |
OMIM:604232 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness |
ORPHA:2787 |
Retinitis Pigmentosa 79 |
|
Photophobia, Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field |
OMIM:617460 |
Retinitis Pigmentosa 17 |
|
Photophobia, Nyctalopia, Color vision defect |
OMIM:600852 |
Tritanopia |
|
Photophobia, Reduced visual acuity, Color vision test abnormality, Tritanomaly |
ORPHA:88629 |
Retinitis Pigmentosa 37 |
|
Photophobia, Red-green dyschromatopsia, Nyctalopia, Tritanomaly |
OMIM:611131 |
Severe Canavan Disease |
|
Blindness, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Retinitis Pigmentosa 63 |
|
Blurred vision, Nyctalopia |
OMIM:614494 |
Macular Dystrophy, Patterned, 1 |
|
Photophobia, Metamorphopsia, Nyctalopia |
OMIM:169150 |
Fundus Albipunctatus |
|
Fundus albipunctatus, Nyctalopia |
OMIM:136880 |
Retinitis Pigmentosa 2 |
|
Ring scotoma, Nyctalopia, Constriction of peripheral visual field, Pericentral scotoma, High myop... |
OMIM:312600 |
Retinitis Pigmentosa 19 |
|
Reduced visual acuity, Visual impairment, Nyctalopia, Constriction of peripheral visual field |
OMIM:601718 |
Retinal Cone Dystrophy 3B |
|
Photophobia, Scotoma, Nyctalopia, Myopia |
OMIM:610356 |
Retinal Cone Dystrophy 3A |
|
Photophobia, Nyctalopia, Reduced visual acuity, High myopia, Dyschromatopsia |
OMIM:610024 |
Retinitis Pigmentosa 62 |
|
Visual field defect, Nyctalopia |
OMIM:614181 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Dysmetria, Reduced visual acuity, Tremor, Visual impairment, Spastic ataxia |
OMIM:270500 |
Cone-Rod Dystrophy 13 |
|
Photophobia, Reduced visual acuity, Visual impairment, Color vision defect |
OMIM:608194 |
3-Methylglutaconic Aciduria, Type Iii |
|
Reduced visual acuity, Ataxia, Visual impairment, Chorea |
OMIM:258501 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Ataxia, EEG with spike-wave complexes, EEG with generalized sl... |
ORPHA:168491 |
Optic Atrophy 12 |
|
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Dyschromatopsia |
OMIM:618977 |
Retinitis Pigmentosa 76 |
|
Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field |
OMIM:617123 |
Cone-Rod Dystrophy 16 |
|
Photophobia, Reduced visual acuity, Progressive visual loss, Nyctalopia |
OMIM:614500 |
Retinitis Pigmentosa 47 |
|
Visual impairment, Nyctalopia |
OMIM:613758 |
Retinitis Pigmentosa 68 |
|
Visual field defect, Nyctalopia |
OMIM:615725 |
Retinitis Pigmentosa 7 |
|
Adult-onset night blindness, Nyctalopia, Constriction of peripheral visual field |
OMIM:608133 |
Jalili Syndrome |
|
Photophobia, Monochromacy, Nyctalopia |
OMIM:217080 |
Retinitis Pigmentosa 61 |
|
Visual impairment, Nyctalopia |
OMIM:614180 |
Achromatopsia |
|
Photophobia, Hypermetropia, Color vision test abnormality, Color vision defect, Reduced visual ac... |
ORPHA:49382 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Microphthalmia, Isolated 5 |
|
Photophobia, Hypermetropia, Nyctalopia, Reduced visual acuity, Visual impairment |
OMIM:611040 |
Retinopathy Of Prematurity |
|
Blindness |
ORPHA:90050 |
Retinitis Pigmentosa 30 |
|
Visual impairment, Nyctalopia |
OMIM:607921 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Retinitis Pigmentosa |
|
Photophobia, Blindness, Visual impairment, Progressive night blindness |
ORPHA:791 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Blindness |
OMIM:271250 |
Achromatopsia 7 |
|
Photophobia, Reduced visual acuity, Central scotoma, Achromatopsia |
OMIM:616517 |
Macular Dystrophy, Vitelliform, 3 |
|
Photophobia, Reduced visual acuity, Metamorphopsia, Visual impairment |
OMIM:608161 |
Retinitis Pigmentosa 90 |
|
Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field |
OMIM:619007 |
Retinitis Pigmentosa 54 |
|
Visual impairment, Nyctalopia |
OMIM:613428 |
Retinitis Pigmentosa 38 |
|
Progressive visual loss, Nyctalopia |
OMIM:613862 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Torsion dystonia, Abn... |
OMIM:128100 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Nyctalopia, Dysmetria, Dysdiadochokinesis, Tremor, Visual impairment, Dystonia |
ORPHA:96 |
Canavan Disease |
|
Opisthotonus, Visual impairment, Hypsarrhythmia, Multifocal epileptiform discharges, Blindness |
OMIM:271900 |
Retinitis Pigmentosa 32 |
|
Photophobia, Reduced visual acuity, Nyctalopia |
OMIM:609913 |
Choroideremia |
|
Progressive visual loss, Visual impairment, Nyctalopia, Constriction of peripheral visual field |
OMIM:303100 |
Cone Dystrophy 3 |
|
Photophobia, Reduced visual acuity, Progressive visual loss |
OMIM:602093 |
Retinitis Pigmentosa 33 |
|
Visual impairment, Nyctalopia |
OMIM:610359 |
Retinitis Pigmentosa |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:268000 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Large central visual field defect, Visual loss, Dysphagia, Blindness, Interictal EEG abnormality |
ORPHA:79264 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Nyctalopia, Impaired vibration sensation in the lower limbs, Positive... |
ORPHA:88628 |
Canavan Disease |
|
Visual impairment, EEG abnormality, Blindness |
ORPHA:141 |
Leber Congenital Amaurosis 9 |
|
Photophobia, Hypermetropia, Ultra-low vision with retained light perception, Nyctalopia, Color vi... |
OMIM:608553 |
Retinitis Pigmentosa 51 |
|
Photophobia, Nyctalopia, Reduced visual acuity, High myopia, Visual impairment |
OMIM:613464 |
Chromosome Xq21 Deletion Syndrome |
|
Progressive visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:303110 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Abnormal posturing, Opisthotonus, Generalized dystonia |
ORPHA:216866 |
Usher Syndrome, Type Iv |
|
Ring scotoma, Nyctalopia, Constriction of peripheral visual field |
OMIM:618144 |
Retinitis Pigmentosa 13 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:600059 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, High myopia, Paracentral scotoma, Progressive night blin... |
OMIM:210370 |
Gyrate Atrophy Of Choroid And Retina |
|
Constriction of peripheral visual field, Progressive night blindness, Progressive visual loss, Bl... |
ORPHA:414 |
Morm Syndrome |
|
Visual impairment, Progressive night blindness |
ORPHA:75858 |
Retinitis Pigmentosa 28 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:606068 |
Usher Syndrome |
|
Visual field defect, Ataxia, High hypermetropia, Nyctalopia, Vestibular areflexia, Visual impairm... |
ORPHA:886 |
Gyrate Atrophy Of Choroid And Retina |
|
Visual impairment, Blindness, Nyctalopia, Myopia |
OMIM:258870 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Hypermetropia, Nyctalopia, Constriction of peripheral visual field |
OMIM:267760 |
Krabbe Disease |
|
EEG abnormality, Blindness, Decreased nerve conduction velocity |
OMIM:245200 |
Retinitis Pigmentosa 73 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:616544 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Abnormality of peripheral nerve conduction, Blindness, Dystonia, Choking episodes |
ORPHA:35069 |
Bothnia Retinal Dystrophy |
|
Nyctalopia |
OMIM:607475 |
Retinitis Pigmentosa 50 |
|
Reduced visual acuity, Nyctalopia |
OMIM:613194 |
Ã…land Islands Eye Disease |
|
Color vision defect, Reduced visual acuity, Myopia, Difficulty adjusting from light to dark |
ORPHA:178333 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
EEG with focal spikes, Ataxia, EEG with focal sharp waves, EEG with generalized sharp slow waves,... |
ORPHA:79243 |
Spinocerebellar Ataxia Type 7 |
|
Hemeralopia, Photophobia, Ataxia, Dysmetria, Reduced visual acuity, Dysdiadochokinesis, Visual lo... |
ORPHA:94147 |
Sarcosinemia |
|
Ataxia, Congenital blindness |
ORPHA:3129 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Photophobia, Color vision defect, Reduced visual acuity, Central scotoma, Visual impairment, Myopia |
OMIM:300476 |
Hsd10 Disease, Infantile Type |
|
Visual loss, Choreoathetosis, Dysphagia, Blindness, Dystonia |
ORPHA:391428 |
Bardet-Biedl Syndrome 21 |
|
Blindness, Myopia, Constriction of peripheral visual field |
OMIM:617406 |
Retinal Cone Dystrophy 4 |
|
Photophobia, Reduced visual acuity, Visual impairment, Constriction of peripheral visual field |
OMIM:610478 |
Retinitis Pigmentosa 9 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:180104 |
Nephronophthisis 15 |
|
Blindness |
OMIM:614845 |
Retinitis Pigmentosa 71 |
|
Nyctalopia |
OMIM:616394 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Constriction of peripheral visual field, Reduced visual acuity, Central scotoma, Visual impairmen... |
OMIM:612989 |
Retinitis Pigmentosa 40 |
|
Nyctalopia |
OMIM:613801 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Blindness, Ataxia, EEG with focal epileptiform discharges, Decreased motor nerve conduction veloc... |
ORPHA:1187 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Nyctalopia |
OMIM:179840 |
Retinitis Pigmentosa 70 |
|
Nyctalopia |
OMIM:615922 |
Retinitis Pigmentosa 12 |
|
Reduced visual acuity, High hypermetropia, Nyctalopia |
OMIM:600105 |
Retinitis Pigmentosa 66 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Central scotoma, Visu... |
OMIM:615233 |
Usher Syndrome, Type 1M |
|
Nyctalopia |
OMIM:618632 |
Retinitis Pigmentosa 6 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:312612 |
Freesia Flowers, Inability To Smell |
|
Blindness |
OMIM:229250 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Blindness, Exaggerated startle response, Chorea |
OMIM:272750 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Photophobia, Reduced visual acuity, Ataxia |
OMIM:618970 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Dysphagia, Blindness, Generalized dystonia |
ORPHA:79107 |
Leber Congenital Amaurosis 15 |
|
Hypermetropia, Nyctalopia, Constriction of peripheral visual field, Color vision defect, Visual i... |
OMIM:613843 |
Immunoneurologic Disorder, X-Linked |
|
Nyctalopia |
OMIM:300076 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Growth delay, Abnormal posturing |
OMIM:614857 |
Friedreich Ataxia |
|
Visual field defect, Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Impaired v... |
OMIM:229300 |
Huntington Disease-Like 1 |
|
Weight loss, Abnormal posturing |
ORPHA:157941 |
Stargardt Disease |
|
Color vision defect, Reduced visual acuity, Central scotoma, Nyctalopia |
ORPHA:827 |
Episodic Ataxia Type 6 |
|
Photophobia, Reduced visual acuity, Ataxia, Diplopia |
ORPHA:209967 |
Retinitis Pigmentosa 88 |
|
Reduced visual acuity, Nyctalopia |
OMIM:618826 |
X-Linked Immunoneurologic Disorder |
|
Nyctalopia |
ORPHA:2571 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Blindness |
OMIM:614514 |
Dermatoosteolysis, Kirghizian Type |
|
Blindness |
OMIM:221810 |
Friedreich Ataxia |
|
Limb ataxia, Dysmetria, Intention tremor, Reduced visual acuity, Decreased motor nerve conduction... |
ORPHA:95 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Gait... |
ORPHA:95433 |
Cach Syndrome |
|
Dysmetria, Limb ataxia, Truncal ataxia, Dysphagia, Blindness |
ORPHA:135 |
Usher Syndrome Type 2 |
|
Ataxia, Nyctalopia, Hemianopia, Visual loss, Scotoma, Myopia |
ORPHA:231178 |
Osteoporosis-Pseudoglioma Syndrome |
|
Visual acuity light perception with projection, Congenital blindness, Moderately reduced visual a... |
ORPHA:2788 |
Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Visual loss, Blindness |
OMIM:300100 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia, Blindness |
ORPHA:713 |
Leukoencephalopathy With Vanishing White Matter |
|
Blindness |
OMIM:603896 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Blindness |
OMIM:250940 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Nyctalopia |
ORPHA:436274 |
Bardet-Biedl Syndrome 4 |
|
Nyctalopia |
OMIM:615982 |
Isolated Succinate-Coq Reductase Deficiency |
|
Reduced visual acuity, Ataxia, Blindness |
ORPHA:3208 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Blindness |
OMIM:236270 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Leg dystonia, Blindness, Visual field defect, Nyctalopia, Intention tremor, Craniofacial dystonia... |
ORPHA:157850 |
Night Blindness, Congenital Stationary, Type 2A |
|
Reduced visual acuity, Congenital stationary night blindness, Visual impairment |
OMIM:300071 |
Infantile Refsum Disease |
|
Ataxia, Visual impairment, Nyctalopia, Constriction of peripheral visual field |
ORPHA:772 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Nyctalopia, Myopia |
ORPHA:1390 |
Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
Methanol Poisoning |
|
Blindness, Visual impairment, Blurred vision |
ORPHA:31825 |
Chromosome Xp11.3 Deletion Syndrome |
|
Nyctalopia, Constriction of peripheral visual field, Moderate myopia, Visual impairment, Blindness |
OMIM:300578 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Congenital blindness |
ORPHA:436182 |
Cone-Rod Dystrophy 8 |
|
Photophobia, Blindness, Nyctalopia, Peripheral visual field loss |
OMIM:605549 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Blindness, Ataxia, Tritanomaly, Resting tremor, Red-green dyschromatopsia, Reduced visual acuity,... |
ORPHA:67036 |
Cone-Rod Dystrophy 6 |
|
Photophobia, Hemeralopia, Nyctalopia, Reduced visual acuity, Progressive night blindness, Periphe... |
OMIM:601777 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Ataxia, EEG abnormality, Visual impairment, Central scotoma, Gait ataxia, Blindness |
ORPHA:543470 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Blindness |
OMIM:618731 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Reduced visual acuity, Blindness |
ORPHA:440727 |
Vitreoretinochoroidopathy |
|
Color vision defect, Blindness, Nyctalopia, Dyschromatopsia |
OMIM:193220 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Tremor, Dysphagia, Abnormal synaptic transmission, Dystonia |
ORPHA:683 |
Gm1 Gangliosidosis |
|
Ataxia, Oral aversion, Tremor, Dysphagia, Blindness, Dystonia, Generalized dystonia |
ORPHA:354 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness |
OMIM:617914 |
Acute Zonal Occult Outer Retinopathy |
|
Visual field defect, Constriction of peripheral visual field, Reduced visual acuity, Blurred visi... |
ORPHA:284454 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Blindness, Myopia |
OMIM:615181 |
Infantile Krabbe Disease |
|
Photophobia, Decreased nerve conduction velocity, Opisthotonus, Visual loss, Hyperesthesia, Blind... |
ORPHA:206436 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Photophobia, Central scotoma, Nyctalopia |
OMIM:617547 |
Retinitis Pigmentosa 89 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:618955 |
Retinitis Pigmentosa 83 |
|
Reduced visual acuity, Nyctalopia, Vitreous floaters, Constriction of peripheral visual field |
OMIM:618173 |
Retinitis Pigmentosa 72 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, High myopia |
OMIM:616469 |
Chromosome 16Q12 Duplication Syndrome |
|
Photophobia, Nyctalopia, Tritanomaly, Reduced visual acuity, High myopia, Paracentral scotoma |
OMIM:619649 |
Tay-Sachs Disease |
|
Blindness, Exaggerated startle response |
OMIM:272800 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness |
OMIM:204850 |
Non-24-Hour Sleep-Wake Syndrome |
|
Blindness |
ORPHA:73267 |
Joubert Syndrome 35 |
|
Progressive visual loss, Ataxia, Nyctalopia |
OMIM:618161 |
Exudative Vitreoretinopathy 4 |
|
Reduced visual acuity, Blindness |
OMIM:601813 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Dystonia, Resting tremor, Abnormal posturing |
ORPHA:225147 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness |
ORPHA:3137 |
Tay-Sachs Disease |
|
Blindness, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Tremor, Dysphagia, Visual... |
ORPHA:845 |
Idiopathic Panuveitis |
|
Photophobia, Blindness, Reduced visual acuity, Blurred vision, Vitreous floaters, Abnormality of ... |
ORPHA:280921 |
Myopathy, Tubular Aggregate, 1 |
|
Nyctalopia |
OMIM:160565 |
Bardet-Biedl Syndrome 3 |
|
Visual impairment, Nyctalopia |
OMIM:600151 |
Familial Exudative Vitreoretinopathy |
|
Reduced visual acuity, Blindness, Vitreous floaters, Severely reduced visual acuity |
ORPHA:891 |
Wolfram Syndrome, Mitochondrial Form |
|
Blindness |
OMIM:598500 |
Cinca Syndrome |
|
Blindness, EEG abnormality, Visual impairment |
ORPHA:1451 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Nyctalopia |
ORPHA:79301 |
Refsum Disease |
|
Ataxia, Nyctalopia, Visual impairment, Progressive visual loss, Abnormality of vision |
ORPHA:773 |
Myopia 23, Autosomal Recessive |
|
High myopia, Reduced visual acuity, Visual impairment |
OMIM:615431 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Blindness |
OMIM:560000 |
Eales Disease |
|
Reduced visual acuity, Blindness, Vitreous floaters, Photopsia |
ORPHA:40923 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Blindness, Visual loss |
ORPHA:171844 |
Retinitis Pigmentosa 49 |
|
Reduced visual acuity, Nyctalopia, Peripheral visual field loss |
OMIM:613756 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
ORPHA:2741 |
Congenital Microcoria |
|
Photophobia, Hemeralopia, Nyctalopia, Blurred vision, Axial myopia, Visual impairment, Blindness |
ORPHA:566 |
Exudative Vitreoretinopathy 1 |
|
Reduced visual acuity, Blindness, Vitreous floaters |
OMIM:133780 |
Sandhoff Disease |
|
Ataxia, Impaired temperature sensation, Blindness, Exaggerated startle response |
OMIM:268800 |
Microphthalmia-Brain Atrophy Syndrome |
|
Blindness |
ORPHA:77299 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Blindness |
ORPHA:1573 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Visual impairment |
ORPHA:53 |
Herpes Simplex Virus Stromal Keratitis |
|
Reduced visual acuity, Blindness |
ORPHA:137599 |
Abetalipoproteinemia |
|
Impaired proprioception, Ataxia, Nyctalopia, Dysmetria, Impaired vibratory sensation, Color visio... |
ORPHA:14 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Dysmetria, Reduced visual acuity, Dysphagia, Blindness |
ORPHA:139396 |
Retinitis Pigmentosa 14 |
|
Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field |
OMIM:600132 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Nyctalopia |
OMIM:266500 |
Cone-Rod Dystrophy 10 |
|
Photophobia, Progressive visual loss, Nyctalopia, Peripheral visual field loss |
OMIM:610283 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Dysmetria, Intention tremor, Reduced visual acuity, Chorea, Tremor, Titubation, Gait... |
ORPHA:397946 |
Night Blindness, Congenital Stationary, Type 1B |
|
Hemeralopia, Congenital stationary night blindness, Nyctalopia, Myopia |
OMIM:257270 |
Retinitis Pigmentosa 77 |
|
Reduced visual acuity, Nyctalopia |
OMIM:617304 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Progressive night blindness, Progressive visual loss, Constriction of peripheral visual field |
ORPHA:436245 |
Cohen Syndrome |
|
Reduced visual acuity, Visual impairment, Nyctalopia, Myopia |
OMIM:216550 |
Retinitis Pigmentosa 58 |
|
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity |
OMIM:613617 |
Joubert Syndrome With Oculorenal Defect |
|
Blindness, Visual impairment, Ataxia |
ORPHA:2318 |
Retinitis Pigmentosa 75 |
|
Myopia, Nyctalopia, Peripheral visual field loss |
OMIM:617023 |
Retinitis Pigmentosa 10 |
|
Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field |
OMIM:180105 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Blindness |
OMIM:193235 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Photophobia, Myopia, Nyctalopia, Visual loss |
ORPHA:5 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
OMIM:164900 |
Neurofibromatosis Type 2 |
|
Diplopia, Reduced visual acuity, Visual loss, Amblyopia, Somatic sensory dysfunction, Hyperesthes... |
ORPHA:637 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Blindness, Myopia |
ORPHA:370959 |
Retinitis Punctata Albescens |
|
Photophobia, Progressive visual field defects, Nyctalopia, Central scotoma, Progressive night bli... |
ORPHA:52427 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Blindness |
OMIM:615287 |
Non-Functioning Pituitary Adenoma |
|
Diplopia, Hemianopia, Heteronymous hemianopia, Bitemporal hemianopia, Progressive visual loss, Su... |
ORPHA:91349 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
Mucopolysaccharidosis Type 3 |
|
Ataxia, Nyctalopia, Fatigable weakness of swallowing muscles, Constriction of peripheral visual f... |
ORPHA:581 |
Prolactinoma |
|
Diplopia, Hemianopia, Heteronymous hemianopia, Bitemporal hemianopia, Progressive visual loss, Su... |
ORPHA:2965 |
Retinitis Pigmentosa 41 |
|
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity |
OMIM:612095 |
Retinitis Pigmentosa 25 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field |
OMIM:602772 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced visual acuity, Nyctalopia, Visual loss |
ORPHA:98974 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Blindness |
ORPHA:3078 |
Disorder Of Bile Acid Synthesis |
|
Nyctalopia |
ORPHA:79168 |
Late-Onset Retinal Degeneration |
|
Photophobia, Nyctalopia, Tritanomaly, Red-green dyschromatopsia, Abnormal best corrected visual a... |
ORPHA:67042 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
High myopia, Blindness |
OMIM:220500 |
Retinitis Pigmentosa 56 |
|
Visual field defect, Reduced visual acuity, Nyctalopia |
OMIM:613581 |
Cerebrooculonasal Syndrome |
|
Blindness |
ORPHA:66625 |
Retinitis Pigmentosa 43 |
|
Visual impairment, Nyctalopia, Peripheral visual field loss |
OMIM:613810 |
Aica-Ribosiduria |
|
Congenital blindness |
ORPHA:250977 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Visual field defect, Ataxia, Nyctalopia, Dysmetria, Impaired vibratory sensation, Impaired propri... |
ORPHA:96180 |
Joubert Syndrome 6 |
|
Ataxia, Blindness |
OMIM:610688 |
Cranioectodermal Dysplasia 4 |
|
Hypermetropia, Visual impairment, Nyctalopia |
OMIM:614378 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Congenital blindness, Visual loss |
OMIM:606995 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Cerebral visual impairment |
OMIM:618367 |
White-Sutton Syndrome |
|
Hypermetropia, EEG abnormality, Visual impairment, Blindness, Myopia |
ORPHA:468678 |
Retinitis Pigmentosa 45 |
|
Nyctalopia, Peripheral visual field loss |
OMIM:613767 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Photophobia, Ataxia, Dysmetria, Constriction of peripheral visual field, Reduced visual acuity, T... |
OMIM:618527 |
Achromatopsia 2 |
|
Photophobia, Hemeralopia, Nyctalopia, Reduced visual acuity, Achromatopsia |
OMIM:216900 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Hypsarrhythmia, Cerebral visual impairment |
OMIM:615574 |
Alstrom Syndrome |
|
Photophobia, Blindness, Visual loss, Constriction of peripheral visual field |
OMIM:203800 |
Saul-Wilson Syndrome |
|
Nyctalopia |
OMIM:618150 |
Vici Syndrome |
|
Failure to thrive, Growth delay, Abnormal posturing |
OMIM:242840 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Tremor, Ataxia, Blindness, Dystonia |
OMIM:612199 |
Osteopetrosis, Autosomal Recessive 1 |
|
Blindness, Visual impairment |
OMIM:259700 |
Stickler Syndrome, Type I |
|
Blindness, Myopia |
OMIM:108300 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Blindness |
OMIM:603387 |
Sturge-Weber Syndrome |
|
Dysphagia, Abnormality of vision, Blindness, Hemianopia |
ORPHA:3205 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia |
OMIM:277350 |
Rodrigues Blindness |
|
Blindness |
OMIM:268320 |
Hermansky-Pudlak Syndrome 1 |
|
Photophobia, Blindness, Severely reduced visual acuity |
OMIM:203300 |
Osteopetrosis, Autosomal Recessive 2 |
|
Blindness |
OMIM:259710 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response, Chorea |
ORPHA:309246 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Aica-Ribosuria Due To Atic Deficiency |
|
Congenital blindness |
OMIM:608688 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of vision, Blindness |
ORPHA:1806 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nyctalopia |
OMIM:615630 |
Hyperekplexia 2 |
|
Exaggerated startle response, Myopia |
OMIM:614619 |
Tsh-Secreting Pituitary Adenoma |
|
Diplopia, Hemianopia, Heteronymous hemianopia, Tremor, Bitemporal hemianopia, Abnormal visual fie... |
ORPHA:91347 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs |
ORPHA:320406 |
Momo Syndrome |
|
Blindness |
OMIM:157980 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Photophobia, Nyctalopia, Color vision defect, Reduced visual acuity, Blurred vision, Myopia, Visu... |
ORPHA:364055 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response, Myopia |
ORPHA:438216 |
Gm1 Gangliosidosis Type 1 |
|
Blindness, Exaggerated startle response |
ORPHA:79255 |
Dermatoosteolysis, Kirghizian Type |
|
Nyctalopia |
ORPHA:1657 |
Momo Syndrome |
|
Blindness |
ORPHA:2563 |
Mccune-Albright Syndrome |
|
Blindness |
OMIM:174800 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Blindness |
OMIM:601499 |
Retinitis Pigmentosa 86 |
|
Progressive visual loss, Nyctalopia |
OMIM:618613 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Blindness |
ORPHA:853 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Visual field defect, Nyctalopia |
ORPHA:166035 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Amoebiasis Due To Free-Living Amoebae |
|
Photophobia, Ataxia, Diplopia, Visual loss, Blindness |
ORPHA:68 |
Mucoepithelial Dysplasia, Hereditary |
|
Photophobia, Blindness |
OMIM:158310 |
Xfe Progeroid Syndrome |
|
Blindness, Visual impairment |
OMIM:610965 |
Mucopolysaccharidosis, Type Iiid |
|
Dysphagia, Visual impairment, Nyctalopia |
OMIM:252940 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Photophobia, Blindness |
OMIM:148210 |
Isolated Complex I Deficiency |
|
Ataxia, Blindness |
ORPHA:2609 |
Webb-Dattani Syndrome |
|
Blindness |
OMIM:615926 |
Xq21 Microdeletion Syndrome |
|
Ataxia, Visual acuity test abnormality, Reduced visual acuity, Dysdiadochokinesis, Gait ataxia, P... |
ORPHA:1435 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Blindness, Myopia |
ORPHA:847 |
Lowry-Wood Syndrome |
|
Nyctalopia, Peripheral visual field loss |
OMIM:226960 |
Bardet-Biedl Syndrome 1 |
|
Ataxia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Myopia |
OMIM:209900 |
Meningioma |
|
Ataxia, Slow decrease in visual acuity, Visual acuity test abnormality, Abnormal kinetic perimetr... |
ORPHA:2495 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Ring scotoma, Nyctalopia, Myopia |
OMIM:616959 |
Dysosteosclerosis |
|
Blindness |
OMIM:224300 |
Cystinosis, Nephropathic |
|
Photophobia, Polydipsia, Blindness, Reduced visual acuity, Dysphagia, Visual impairment, Oral-pha... |
OMIM:219800 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response, Impaired oropharyngeal swallow response, Hypsarrhythmia |
ORPHA:521426 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Visual loss, Blindness, Amblyopia |
ORPHA:2250 |
Weill-Marchesani Syndrome 1 |
|
High myopia, Blindness |
OMIM:277600 |
Enhanced S-Cone Syndrome |
|
Hemeralopia, Nyctalopia |
OMIM:268100 |
Persistent Hyperplastic Primary Vitreous |
|
Reduced visual acuity, Blindness, Amblyopia |
ORPHA:91495 |
Cogan Syndrome |
|
Photophobia, Reduced visual acuity, Blindness |
ORPHA:1467 |
Cancer-Associated Retinopathy |
|
Photophobia, Progressive visual field defects, Constriction of peripheral visual field, Reduced v... |
ORPHA:71505 |
Arima Syndrome |
|
Ataxia, Blindness |
OMIM:243910 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Blindness, Visual loss, Amblyopia, Abnormality of vision, Myopia |
ORPHA:2526 |
Plasminogen Deficiency, Type I |
|
Blindness |
OMIM:217090 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Exaggerated startle response |
OMIM:617301 |
Bardet-Biedl Syndrome 20 |
|
Hemeralopia, Hypermetropia, Nyctalopia, Constriction of peripheral visual field |
OMIM:619471 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Blindness, Myopia |
OMIM:236670 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Ataxia, Blindness |
OMIM:252010 |
Hydranencephaly |
|
Blindness, Opisthotonus |
ORPHA:2177 |
Leprosy |
|
Dissociated sensory loss, Paresthesia, Dysesthesia, Impaired temperature sensation, Blindness |
ORPHA:548 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Nyctalopia, Peripheral visual field loss |
OMIM:250410 |
Weill-Marchesani Syndrome 2 |
|
High myopia, Blindness |
OMIM:608328 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Corneodermatoosseous Syndrome |
|
Photophobia, Nyctalopia, Hemeralopia |
ORPHA:3194 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Blindness, Myopia |
OMIM:225400 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypermetropia, Exaggerated startle response, Myopia |
OMIM:253800 |
Dpagt1-Cdg |
|
Ataxia, Nyctalopia, Tremor, Hypsarrhythmia, EEG with generalized slow activity |
ORPHA:86309 |
Cryptococcosis |
|
Abnormality of vision, Blindness |
ORPHA:1546 |
Behçet Disease |
|
Photophobia, Ataxia, Paresthesia, Blindness |
ORPHA:117 |
Norrie Disease |
|
Blindness |
OMIM:310600 |
Joubert Syndrome 5 |
|
Reduced visual acuity, Ataxia, Congenital blindness |
OMIM:610188 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Dysphagia, Exaggerated startle response |
OMIM:617527 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Visual loss, Blindness, Amblyopia |
ORPHA:2556 |
Hepatoerythropoietic Porphyria |
|
Paresthesia, Blindness |
ORPHA:95159 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Congenital blindness |
OMIM:263100 |
Osteoporosis-Pseudoglioma Syndrome |
|
Blindness |
OMIM:259770 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:619418 |
Mucopolysaccharidosis Type 2 |
|
Large central visual field defect, Decreased nerve conduction velocity, Peripheral visual field l... |
ORPHA:580 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Congenital Erythropoietic Porphyria |
|
Paresthesia, Blindness |
ORPHA:79277 |
Stickler Syndrome |
|
Blindness, Visual impairment, Myopia |
ORPHA:828 |
Pierson Syndrome |
|
High myopia, Blindness |
OMIM:609049 |
Renpenning Syndrome 1 |
|
Hypermetropia, Blindness |
OMIM:309500 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Photophobia, Blindness, Visual loss, Oral-pharyngeal dysphagia |
ORPHA:95455 |
Hyper-Igd Syndrome |
|
Nyctalopia |
OMIM:260920 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Visual impairment, Nyctalopia, Peripheral visual field loss |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Visual impairment, Nyctalopia, Peripheral visual field loss |
ORPHA:217093 |
Fraser Syndrome 1 |
|
Blindness |
OMIM:219000 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Blindness |
ORPHA:79078 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypermetropia, Exaggerated startle response, Cerebral visual impairment, Dysphagia, Abnormality o... |
ORPHA:438213 |
Menke-Hennekam Syndrome 1 |
|
Hypermetropia, Blindness |
OMIM:618332 |
Fraser Syndrome |
|
Blindness |
ORPHA:2052 |
Norrie Disease |
|
EEG abnormality, Blindness |
ORPHA:649 |
17Q11 Microdeletion Syndrome |
|
Progressive visual loss, Blindness |
ORPHA:97685 |
Sarcoidosis |
|
Blindness |
ORPHA:797 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Dysphagia, Hypermetropia, High hypermetropia, Exaggerated startle response |
OMIM:619522 |
Microphthalmia, Syndromic 6 |
|
Blindness, Myopia |
OMIM:607932 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Nyctalopia |
OMIM:619321 |
Alström Syndrome |
|
Photophobia, Visual field defect, Ataxia, Visual loss, Somatic sensory dysfunction, Polyphagia, B... |
ORPHA:64 |
Microphthalmia, Syndromic 1 |
|
Blindness |
OMIM:309800 |