Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... |
OMIM:619565 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Impulsivity, Tremor, Chorea, Dysphagia, Focal dystonia, Compulsive behaviors, Limb dys... |
ORPHA:216873 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Visual loss, Blindness, Ataxia, EEG abnormality |
OMIM:610951 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Blindness, Chorea, Dysphagia |
OMIM:607674 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Blindness, Ataxia, Tremor, Visual loss, Chorea, Progressive visual fi... |
ORPHA:79263 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Blindness, Ataxia, Visual loss, Truncal ataxia, Dysphagia, Dysmetria, Gait ataxia, Arm dystonia, ... |
OMIM:601338 |
Bietti Crystalline Dystrophy |
|
Blindness, Constriction of peripheral visual field, Large central visual field defect, Central sc... |
ORPHA:41751 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Blindness, Reduced visual acuity |
OMIM:601553 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Central scotoma, Reduced visual acuity, Gait ataxia, Choreoa... |
ORPHA:98890 |
Retinitis Pigmentosa 35 |
|
Blindness, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
EEG abnormality, Blindness, Ataxia, Progressive visual loss |
OMIM:256730 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Severely reduced visual acuity |
OMIM:309555 |
Leukodystrophy, Hypomyelinating, 14 |
|
Blindness, Dystonia |
OMIM:617899 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness |
OMIM:610612 |
Retinitis Pigmentosa 29 |
|
Blindness |
OMIM:612165 |
Behr Syndrome |
|
Blindness, Ataxia, Tremor, Truncal ataxia, Dysmetria, Progressive visual loss, Dysphagia, Visual ... |
OMIM:210000 |
Newfoundland Rod-Cone Dystrophy |
|
Nyctalopia, Scotoma, Visual impairment, Color vision defect |
OMIM:607476 |
Cataract 11, Multiple Types |
|
Blindness, Chorea |
OMIM:610623 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
Retinitis Pigmentosa 73 |
|
Ring scotoma, Constriction of peripheral visual field, Photopsia, Central scotoma, Nyctalopia, Bl... |
OMIM:616544 |
Retinitis Pigmentosa 27 |
|
Blindness, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Visual imp... |
OMIM:613750 |
Optic Pathway Glioma |
|
Blindness, Visual loss, Reduced visual acuity, Visual field defect, Fatigable weakness |
ORPHA:2086 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect |
OMIM:304020 |
Retinitis Pigmentosa 78 |
|
Reduced visual acuity, Nyctalopia, Photopsia, Visual field defect |
OMIM:617433 |
Choroideremia |
|
Myopia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment |
ORPHA:180 |
Sorsby Fundus Dystrophy |
|
Blindness |
OMIM:136900 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness |
OMIM:302700 |
Congenital Stationary Night Blindness |
|
Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund... |
ORPHA:215 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Large central visual field defect, Visual loss, Nyctalopia, Severely reduced visual ac... |
ORPHA:59181 |
Cone-Rod Dystrophy 24 |
|
Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio... |
OMIM:620342 |
Cone-Rod Dystrophy 12 |
|
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect |
OMIM:612657 |
Leber Congenital Amaurosis 2 |
|
Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Eye poking |
OMIM:204100 |
Retinitis Pigmentosa 80 |
|
Blindness, Progressive visual loss, Nyctalopia |
OMIM:617781 |
Central Areolar Choroidal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity, Slow decrease in visual acuity, Dyschromatopsia, ... |
ORPHA:75377 |
Retinitis Pigmentosa 4 |
|
Blindness, Visual field defect, Reduced visual acuity, Nyctalopia |
OMIM:613731 |
Temporal Arteritis |
|
Blindness |
OMIM:187360 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... |
ORPHA:99947 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness |
OMIM:268010 |
Leber Congenital Amaurosis 16 |
|
Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment |
OMIM:614186 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Ataxia, Tremor, Visual loss, Decreased... |
ORPHA:206443 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Photopsia, Vitreous floaters, Amblyopia, Reduced visual acuity, Paracentral sc... |
ORPHA:71213 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Blindness, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Vis... |
ORPHA:168491 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Retinitis Pigmentosa 11 |
|
Blindness, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia |
OMIM:600138 |
Optic Atrophy 1 |
|
Ataxia, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Centrocecal scotoma, T... |
OMIM:165500 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Blindness, Ataxia |
OMIM:551500 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Visual impairment, Severely reduced visual acuity |
OMIM:613794 |
Usher Syndrome Type 3 |
|
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia |
ORPHA:231183 |
Sandhoff Disease |
|
Blindness, Ataxia |
ORPHA:796 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Color vision ... |
OMIM:616732 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity |
OMIM:616079 |
Leber Congenital Amaurosis 1 |
|
Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Eye poking |
OMIM:204000 |
Cone Rod Dystrophy |
|
Photophobia, Nyctalopia, Visual impairment, Color vision defect |
ORPHA:1872 |
Cavitary Optic Disc Anomalies |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:611543 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness |
OMIM:609634 |
Usher Syndrome, Type Iiia |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:276902 |
Leber Congenital Amaurosis 4 |
|
Blindness, Reduced visual acuity, Nyctalopia |
OMIM:604393 |
Retinitis Pigmentosa 18 |
|
Nyctalopia, Progressive visual field defects, Scotoma |
OMIM:601414 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Blindness, Ring scotoma, Ataxia, Nyctalopia, Impaired vibration sensation in the lower limbs, Imp... |
OMIM:609033 |
Retinitis Pigmentosa 3 |
|
Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my... |
OMIM:300029 |
Usher Syndrome Type 1 |
|
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia |
ORPHA:231169 |
Bothnia Retinal Dystrophy |
|
Large central visual field defect, Ring scotoma, Central scotoma, Nyctalopia, Visual field defect... |
ORPHA:85128 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Reduced visual acuity, Progressive visual loss |
OMIM:204200 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Nyctalopia, Photophobia, Progressive visual loss, Color ... |
OMIM:613660 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Photophobia, Progressive night blindness, Visual impairment |
ORPHA:75858 |
Retinitis Pigmentosa 92 |
|
Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field, Visual impairment |
OMIM:619614 |
Retinitis Pigmentosa 1 |
|
Myopia, Constriction of peripheral visual field, Scotoma, Nyctalopia, Reduced visual acuity |
OMIM:180100 |
Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Tremor, Reduced visu... |
OMIM:304700 |
Retinal Cone Dystrophy 3B |
|
Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:610356 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Alpers-Huttenlocher Syndrome |
|
Abnormality of vision, Blindness, Ataxia, Choreoathetosis |
ORPHA:726 |
Prolonged Electroretinal Response Suppression 2 |
|
Photophobia, Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced ... |
OMIM:620344 |
Macular Dystrophy, Retinal, 4 |
|
Nyctalopia, Reduced visual acuity |
OMIM:619977 |
Retinitis Pigmentosa 85 |
|
Progressive night blindness, Reduced visual acuity |
OMIM:618345 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Central scotoma, Red-green dyschromatopsia, Reduced ... |
OMIM:125250 |
Retinitis Pigmentosa 68 |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:615725 |
Macular Dystrophy, Patterned, 1 |
|
Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity |
OMIM:169150 |
Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
Cone-Rod Dystrophy 21 |
|
Photophobia, Nyctalopia, Reduced visual acuity |
OMIM:616502 |
Leber Congenital Amaurosis 3 |
|
Visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:604232 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Blindness, Nyctalopia |
OMIM:180210 |
Narp Syndrome |
|
Abnormal visual field test, Blindness, Constriction of peripheral visual field, Ataxia, Progressi... |
ORPHA:644 |
Retinitis Pigmentosa 62 |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:614181 |
Leber Congenital Amaurosis 14 |
|
Photophobia, Congenital blindness, Nyctalopia, Reduced visual acuity |
OMIM:613341 |
Cone-Rod Dystrophy 2 |
|
Blindness, Metamorphopsia, Constriction of peripheral visual field, Central scotoma, Nyctalopia, ... |
OMIM:120970 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Central scoto... |
OMIM:312600 |
Retinitis Pigmentosa 17 |
|
Photophobia, Nyctalopia, Color vision defect |
OMIM:600852 |
Retinal Cone Dystrophy 3A |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness |
ORPHA:2787 |
Late-Onset Retinal Degeneration |
|
Visual loss, Adult-onset night blindness, Scotoma |
OMIM:605670 |
Severe Canavan Disease |
|
Blindness, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Fleck Retina, Familial Benign |
|
Nyctalopia, Visual impairment |
OMIM:228980 |
Retinitis Pigmentosa 19 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment |
OMIM:601718 |
Retinitis Pigmentosa 63 |
|
Nyctalopia, Blurred vision |
OMIM:614494 |
Fundus Albipunctatus |
|
Nyctalopia, Fundus albipunctatus |
OMIM:136880 |
Night Blindness, Congenital Stationary, Type 1F |
|
Congenital stationary night blindness, Nyctalopia, Reduced visual acuity, High myopia |
OMIM:615058 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Retinitis Pigmentosa 79 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:617460 |
Retinitis Pigmentosa 76 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:617123 |
Retinitis Pigmentosa 69 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:615780 |
Cln3 Disease |
|
Blindness, Ataxia, Aggressive behavior, Amblyopia, Progressive visual loss, Dysphagia |
ORPHA:228346 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Visual impairment |
OMIM:613758 |
Retinitis Pigmentosa 7 |
|
Nyctalopia, Constriction of peripheral visual field, Adult-onset night blindness |
OMIM:608133 |
Cone-Rod Dystrophy 16 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Progressive visual loss |
OMIM:614500 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Tritanomaly, Nyctalopia, Reduced visual acuity, Visual impairment |
OMIM:615147 |
Leber Congenital Amaurosis 9 |
|
Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia... |
OMIM:608553 |
Retinitis Pigmentosa 61 |
|
Nyctalopia, Visual impairment |
OMIM:614180 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Large central visual field defect, Blindness, Visual loss, Dysphagia,... |
ORPHA:79264 |
Retinitis Pigmentosa 90 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:619007 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Oroma... |
OMIM:128100 |
Retinitis Pigmentosa 38 |
|
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss |
OMIM:613862 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Retinitis Pigmentosa 30 |
|
Nyctalopia, Visual impairment |
OMIM:607921 |
Retinitis Pigmentosa 70 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:615922 |
Retinitis Pigmentosa 81 |
|
Nyctalopia, Reduced visual acuity |
OMIM:617871 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Blindness, Ataxia, EEG with focal sharp waves, Hypsarrhythmia, EEG with generalized sharp slow wa... |
ORPHA:79243 |
Choroideremia |
|
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss, Visual impairment |
OMIM:303100 |
Retinitis Pigmentosa 54 |
|
Nyctalopia, Visual impairment |
OMIM:613428 |
Retinopathy Of Prematurity |
|
Blindness |
ORPHA:90050 |
Microphthalmia, Isolated 5 |
|
Photophobia, High hypermetropia, Nyctalopia, Reduced visual acuity |
OMIM:611040 |
Retinitis Pigmentosa |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:268000 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Nyctalopia, Dysmetria, Dysdiadochokinesis, Dystonia, Visual impairment |
ORPHA:96 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness, Ataxia |
OMIM:271250 |
Retinitis Pigmentosa 32 |
|
Photophobia, Nyctalopia, Reduced visual acuity |
OMIM:609913 |
Canavan Disease |
|
Blindness, Multifocal epileptiform discharges, Hypsarrhythmia, Opisthotonus, Visual impairment |
OMIM:271900 |
Retinitis Pigmentosa |
|
Photophobia, Progressive night blindness, Blindness, Visual impairment |
ORPHA:791 |
Retinitis Pigmentosa 33 |
|
Nyctalopia, Visual impairment |
OMIM:610359 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Blindness, Visual loss, Dysphagia, Choreoathetosis, Dystonia, Paroxysmal bursts of ... |
ORPHA:391428 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Nyctalopia, Reduced visual acuity |
OMIM:610156 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Blindness, Dystonia, Ataxia, Impulsivity, Choking episodes, Abnormality of periphe... |
ORPHA:35069 |
Usher Syndrome, Type Iid |
|
Nyctalopia |
OMIM:611383 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Visual loss, Nyctalopia, Impaired vibration sensation in the lower li... |
ORPHA:88628 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Blindness, Ataxia |
OMIM:618225 |
Chromosome Xq21 Deletion Syndrome |
|
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss |
OMIM:303110 |
Usher Syndrome, Type Iv |
|
Nyctalopia, Constriction of peripheral visual field, Ring scotoma |
OMIM:618144 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Abnormal posturing, Generalized dystonia, Opisthotonus |
ORPHA:216866 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Reduced visual acuity, Dysmetria, Gait ataxia |
OMIM:611302 |
Canavan Disease |
|
EEG abnormality, Blindness, Visual impairment |
ORPHA:141 |
Retinitis Pigmentosa 28 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:606068 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Dystonia, Impulsivity, Nyctalopia, Craniofacial dystonia, Leg dystonia, Peripheral vis... |
ORPHA:157850 |
Spinocerebellar Ataxia Type 7 |
|
Restless legs, Blindness, Somatic sensory dysfunction, Ataxia, Visual loss, Reduced visual acuity... |
ORPHA:94147 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Progressive visual loss, Progressive ... |
ORPHA:414 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Nyctalopia, Constriction of peripheral visual field, Hypermetropia |
OMIM:267760 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Visual impairment, Nyctalopia |
OMIM:258870 |
Usher Syndrome |
|
Myopia, Blindness, Ataxia, Nyctalopia, Vestibular areflexia, Visual field defect, Progressive vis... |
ORPHA:886 |
Cach Syndrome |
|
Blindness, Limb ataxia, Dysmetria, Dysphagia, Truncal ataxia |
ORPHA:135 |
Cone-Rod Dystrophy 20 |
|
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, High myopia, Tri... |
OMIM:615973 |
Microphthalmia-Brain Atrophy Syndrome |
|
Blindness, Tongue thrusting |
ORPHA:77299 |
Retinitis Pigmentosa 51 |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Visual impairment |
OMIM:613464 |
Nephronophthisis 15 |
|
Blindness |
OMIM:614845 |
Krabbe Disease |
|
Decreased nerve conduction velocity, EEG abnormality, Blindness |
OMIM:245200 |
Bothnia Retinal Dystrophy |
|
Nyctalopia |
OMIM:607475 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Myopia, Postural tremor, Ataxia, Head titubation, Visual loss, Impa... |
OMIM:615491 |
Retinitis Pigmentosa 9 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:180104 |
Sarcosinemia |
|
Congenital blindness, Ataxia |
ORPHA:3129 |
Retinitis Pigmentosa 59 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:613861 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia |
OMIM:277350 |
Retinitis Pigmentosa 50 |
|
Nyctalopia, Reduced visual acuity |
OMIM:613194 |
Adrenoleukodystrophy |
|
Blindness, Visual loss, Limb ataxia, Attention deficit hyperactivity disorder, Truncal ataxia, Im... |
OMIM:300100 |
Retinitis Pigmentosa 71 |
|
Nyctalopia |
OMIM:616394 |
Retinitis Pigmentosa 40 |
|
Nyctalopia |
OMIM:613801 |
Bardet-Biedl Syndrome 21 |
|
Myopia, Blindness, Constriction of peripheral visual field |
OMIM:617406 |
Retinitis Pigmentosa 66 |
|
Constriction of peripheral visual field, Central scotoma, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615233 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Nyctalopia |
OMIM:179840 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Blindness, Ataxia, EEG with focal epileptiform dischar... |
ORPHA:1187 |
Methanol Poisoning |
|
Blindness, Addictive alcohol use, Visual impairment, Blurred vision |
ORPHA:31825 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Reduced visual acuity, Dysphagia, Limb dy... |
ORPHA:508093 |
Night Blindness, Congenital Stationary, Type 1E |
|
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia |
OMIM:614565 |
Retinitis Pigmentosa 12 |
|
High hypermetropia, Nyctalopia, Reduced visual acuity |
OMIM:600105 |
Usher Syndrome, Type 1M |
|
Nyctalopia |
OMIM:618632 |
Retinitis Pigmentosa 6 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:312612 |
Immunoneurologic Disorder, X-Linked |
|
Nyctalopia |
OMIM:300076 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Abnormal posturing, Failure to thrive |
OMIM:614857 |
Peroxisome Biogenesis Disorder 9B |
|
Nyctalopia, Constriction of peripheral visual field, Ataxia, Reduced visual acuity |
OMIM:614879 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Blindness, Generalized dystonia, Dysphagia |
ORPHA:79107 |
Usher Syndrome Type 2 |
|
Myopia, Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia |
ORPHA:231178 |
Huntington Disease-Like 1 |
|
Abnormal posturing, Weight loss |
ORPHA:157941 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Gm2-Gangliosidosis, Ab Variant |
|
Blindness, Chorea, Exaggerated startle response, Dystonia |
OMIM:272750 |
Retinitis Pigmentosa 88 |
|
Nyctalopia, Reduced visual acuity |
OMIM:618826 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Dysphagia, Abnormal synaptic transmission, Blepharospasm, Dystonia |
ORPHA:683 |
Isolated Succinate-Coq Reductase Deficiency |
|
Blindness, Ataxia, Reduced visual acuity |
ORPHA:3208 |
Jalili Syndrome |
|
Scotoma, Nyctalopia, Monochromacy, Photophobia, High hypermetropia, Visual impairment |
OMIM:217080 |
X-Linked Immunoneurologic Disorder |
|
Nyctalopia |
ORPHA:2571 |
Stargardt Disease |
|
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect |
ORPHA:827 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Reduced visual acuity, Limb ataxia... |
OMIM:229300 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Reduced visual acuity... |
ORPHA:95 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Blindness, Ataxia |
ORPHA:713 |
Osteoporosis-Pseudoglioma Syndrome |
|
Congenital blindness, Severely reduced visual acuity, Visual acuity light perception with project... |
ORPHA:2788 |
Isolated Atp Synthase Deficiency |
|
Blindness, Ataxia, Dystonia |
ORPHA:254913 |
Retinitis Pigmentosa 84 |
|
Nyctalopia, Visual acuity no light perception |
OMIM:618220 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Blindness |
OMIM:614514 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Blindness, Ataxia, Central scotoma, Gait ataxia, EEG abnormality, Visual impairment |
ORPHA:543470 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation, Visu... |
OMIM:618056 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Blindness |
OMIM:603896 |
Bardet-Biedl Syndrome 4 |
|
Nyctalopia |
OMIM:615982 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Nyctalopia |
ORPHA:436274 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Constriction of peripheral visual field, Blindness, Nyctalopia, Visual impairment |
OMIM:300578 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Blindness, Impaired vibration sensation in the lower limbs, Gait ataxia, Progressive cerebellar a... |
ORPHA:95433 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Blindness |
OMIM:250940 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Myopia, Nyctalopia |
ORPHA:1390 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Visual impa... |
OMIM:616881 |
Infantile Refsum Disease |
|
Nyctalopia, Constriction of peripheral visual field, Ataxia, Visual impairment |
ORPHA:772 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Blindness |
OMIM:618731 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Myopia, Blindness |
OMIM:615181 |
Retinitis Pigmentosa 60 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Peripheral visual fie... |
OMIM:613983 |
Leber Congenital Amaurosis 15 |
|
Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia... |
OMIM:613843 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Nyctalopia |
OMIM:616108 |
Cone-Rod Dystrophy 8 |
|
Photophobia, Blindness, Peripheral visual field loss, Nyctalopia |
OMIM:605549 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Congenital blindness |
ORPHA:436182 |
Retinitis Pigmentosa 83 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Vitreous floaters |
OMIM:618173 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Blindness, Somatic sensory dysfunction, Postural tremor, Ataxia, Red-green dyschr... |
ORPHA:67036 |
Chromosome 16Q12 Duplication Syndrome |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly |
OMIM:619649 |
Retinitis Pigmentosa 72 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia |
OMIM:616469 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity |
ORPHA:440727 |
Cone-Rod Dystrophy 6 |
|
Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Photophobia, Hemeralopia, Progre... |
OMIM:601777 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206436 |
Gm1 Gangliosidosis |
|
Blindness, Generalized dystonia, Ataxia, Tremor, Dysphagia, Dystonia, Oral aversion |
ORPHA:354 |
Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
Retinitis Pigmentosa 89 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:618955 |
Acute Zonal Occult Outer Retinopathy |
|
Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Visua... |
ORPHA:284454 |
Non-24-Hour Sleep-Wake Syndrome |
|
Blindness |
ORPHA:73267 |
Tay-Sachs Disease |
|
Blindness, Exaggerated startle response |
OMIM:272800 |
Tay-Sachs Disease |
|
Blindness, Exaggerated startle response, Tremor, Dysphagia, Dysmetria, Dystonia, Laryngeal dyston... |
ORPHA:845 |
White-Sutton Syndrome |
|
Myopia, Blindness, Hyperactivity, Aggressive behavior, Hypermetropia, Self-injurious behavior, EE... |
ORPHA:468678 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Abnormal posturing, Dystonia, Titubation |
ORPHA:225147 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness |
OMIM:204850 |
Exudative Vitreoretinopathy 4 |
|
Blindness, Reduced visual acuity |
OMIM:601813 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Blindness |
OMIM:236270 |
Vitreoretinochoroidopathy |
|
Blindness, Dyschromatopsia, Color vision defect, Nyctalopia |
OMIM:193220 |
Idiopathic Panuveitis |
|
Blindness, Vitreous floaters, Reduced visual acuity, Abnormality of vision, Photophobia, Blurred ... |
ORPHA:280921 |
Joubert Syndrome 35 |
|
Nyctalopia, Ataxia, Progressive visual loss |
OMIM:618161 |
Sandhoff Disease |
|
Blindness, Ataxia, Exaggerated startle response, Impaired temperature sensation |
OMIM:268800 |
Bardet-Biedl Syndrome 3 |
|
Nyctalopia, Visual impairment |
OMIM:600151 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Blindness, Ataxia, Reduced visual acuity, Dysmetria, Dysphagia |
ORPHA:139396 |
Wolfram Syndrome, Mitochondrial Form |
|
Blindness |
OMIM:598500 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness |
ORPHA:3137 |
Joubert Syndrome 6 |
|
Blindness, Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Nyctalopia, Reduced visual acuity, Attention deficit hyperactivity disorder |
OMIM:618195 |
Familial Exudative Vitreoretinopathy |
|
Reduced visual acuity, Severely reduced visual acuity, Blindness, Vitreous floaters |
ORPHA:891 |
Retinitis Pigmentosa 77 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:617304 |
Myopathy, Tubular Aggregate, 1 |
|
Nyctalopia |
OMIM:160565 |
Cinca Syndrome |
|
EEG abnormality, Blindness, Visual impairment |
ORPHA:1451 |
Retinitis Pigmentosa 49 |
|
Nyctalopia, Reduced visual acuity, Peripheral visual field loss |
OMIM:613756 |
Mucopolysaccharidosis Type 3 |
|
Myopia, Blindness, Constriction of peripheral visual field, Hyperactivity, Ataxia, Aggressive beh... |
ORPHA:581 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Nyctalopia |
ORPHA:79301 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Blindness, Ataxia |
OMIM:560000 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Visual loss, Blindness |
ORPHA:171844 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
ORPHA:2741 |
Retinitis Pigmentosa 14 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:600132 |
Herpes Simplex Virus Stromal Keratitis |
|
Blindness, Reduced visual acuity |
ORPHA:137599 |
Refsum Disease |
|
Ataxia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment |
ORPHA:773 |
Eales Disease |
|
Reduced visual acuity, Blindness, Photopsia, Vitreous floaters |
ORPHA:40923 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Blindness |
ORPHA:1573 |
Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision |
ORPHA:566 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Visual impairment |
ORPHA:53 |
Exudative Vitreoretinopathy 1 |
|
Blindness, Reduced visual acuity, Vitreous floaters |
OMIM:133780 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Blindness, Ataxia, Scotoma, Impaired distal proprioception, Nyctalo... |
ORPHA:14 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Reduced visual acuity, High myopia, Paracentral scotoma,... |
OMIM:210370 |
Asparagine Synthetase Deficiency |
|
Blindness, Exaggerated startle response, Cerebral visual impairment, Tremor, EEG with burst suppr... |
OMIM:615574 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Cone-Rod Dystrophy 10 |
|
Photophobia, Nyctalopia, Progressive visual loss, Peripheral visual field loss |
OMIM:610283 |
Retinitis Pigmentosa 10 |
|
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:180105 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Progressive night blindness, Constriction of peripheral visual field, Progressive visual loss |
ORPHA:436245 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity |
OMIM:617547 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Myopia, Blindness |
ORPHA:370959 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Photophobia, Myopia, Nyctalopia, Visual loss |
ORPHA:5 |
Retinitis Pigmentosa 58 |
|
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity |
OMIM:613617 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Refsum Disease, Classic |
|
Nyctalopia, Ataxia, Somatic sensory dysfunction |
OMIM:266500 |
Joubert Syndrome With Oculorenal Defect |
|
Blindness, Ataxia, Visual impairment |
ORPHA:2318 |
Night Blindness, Congenital Stationary, Type 1B |
|
Hemeralopia, Myopia, Nyctalopia, Congenital stationary night blindness |
OMIM:257270 |
Cohen Syndrome |
|
Myopia, Nyctalopia, Reduced visual acuity, Visual impairment |
OMIM:216550 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Blindness, High myopia |
OMIM:220500 |
Retinitis Punctata Albescens |
|
Central scotoma, Nyctalopia, Progressive visual field defects, Peripheral visual field loss, Phot... |
ORPHA:52427 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Blindness |
OMIM:193235 |
Non-Functioning Pituitary Adenoma |
|
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... |
ORPHA:91349 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
OMIM:164900 |
Retinitis Pigmentosa 13 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:600059 |
Full Nf2-Related Schwannomatosis |
|
Blindness, Somatic sensory dysfunction, Amblyopia, Visual loss, Diplopia, Reduced visual acuity, ... |
ORPHA:637 |
Retinitis Pigmentosa 25 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field |
OMIM:602772 |
Retinitis Pigmentosa 56 |
|
Nyctalopia, Reduced visual acuity, Visual field defect |
OMIM:613581 |
Fuchs Endothelial Corneal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity |
ORPHA:98974 |
Retinitis Pigmentosa 75 |
|
Myopia, Nyctalopia, Peripheral visual field loss |
OMIM:617023 |
Retinitis Pigmentosa 41 |
|
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity |
OMIM:612095 |
Prolactinoma |
|
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... |
ORPHA:2965 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Blindness |
ORPHA:3078 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Myopia, Nyctalopia, High myopia |
OMIM:617763 |
Late-Onset Retinal Degeneration |
|
Red-green dyschromatopsia, Visual loss, Nyctalopia, Photophobia, Abnormal best corrected visual a... |
ORPHA:67042 |
Sturge-Weber Syndrome |
|
Blindness, Abnormality of vision, Hemianopia, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:3205 |
Retinitis Pigmentosa 43 |
|
Nyctalopia, Peripheral visual field loss, Visual impairment |
OMIM:613810 |
Cerebrooculonasal Syndrome |
|
Blindness |
ORPHA:66625 |
Cranioectodermal Dysplasia 4 |
|
Nyctalopia, Hypermetropia, Visual impairment |
OMIM:614378 |
Aica-Ribosiduria |
|
Congenital blindness |
ORPHA:250977 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness, Attention deficit hyperactivity disorder |
OMIM:617914 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Nyctalopia, Impaired proprioception, Dysmetria, Visual fiel... |
ORPHA:96180 |
Senior-Loken Syndrome 3 |
|
Visual loss, Polydipsia, Congenital blindness |
OMIM:606995 |
Alstrom Syndrome |
|
Photophobia, Visual loss, Blindness, Constriction of peripheral visual field |
OMIM:203800 |
Hyperekplexia 2 |
|
Myopia, Exaggerated startle response |
OMIM:614619 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Chorea, EEG with generalized slow activity |
OMIM:617864 |
Retinitis Pigmentosa 45 |
|
Nyctalopia, Peripheral visual field loss |
OMIM:613767 |
Achromatopsia 2 |
|
Nyctalopia, Reduced visual acuity, Photophobia, Hemeralopia, Achromatopsia |
OMIM:216900 |
Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Aggressive behavior, Nyctalopia, Oppositional defiant disorder, Agit... |
OMIM:252940 |
Osteopetrosis, Autosomal Recessive 1 |
|
Blindness, Visual impairment |
OMIM:259700 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs |
ORPHA:320406 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Cerebral visual impairment |
OMIM:620114 |
Gm1 Gangliosidosis Type 1 |
|
Blindness, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Blindness |
OMIM:603387 |
Stickler Syndrome, Type I |
|
Myopia, Blindness |
OMIM:108300 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Myopia, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Tremor, Blindness, Ataxia, Dystonia |
OMIM:612199 |
Rodrigues Blindness |
|
Blindness |
OMIM:268320 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nyctalopia |
OMIM:615630 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of vision, Blindness |
ORPHA:1806 |
Osteopetrosis, Autosomal Recessive 2 |
|
Blindness |
OMIM:259710 |
Hermansky-Pudlak Syndrome 1 |
|
Photophobia, Severely reduced visual acuity, Blindness |
OMIM:203300 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Myopia, Nyctalopia, Blurred vision, Reduced visual acuity, Peripheral visual field loss, Photopho... |
ORPHA:364055 |
Momo Syndrome |
|
Blindness |
OMIM:157980 |
Vici Syndrome |
|
Postnatal growth retardation, Abnormal posturing, Failure to thrive |
OMIM:242840 |
Tsh-Secreting Pituitary Adenoma |
|
Bitemporal hemianopia, Blindness, Abnormal visual field test, Tremor, Diplopia, Hemianopia, Sudde... |
ORPHA:91347 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Blindness, Ataxia, Visual loss, Diplopia, Photophobia |
ORPHA:68 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, EEG abnormality, Exaggerated startle response |
OMIM:617281 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Blindness |
OMIM:601499 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Myopia, Blindness, Self-injurious behavior |
ORPHA:847 |
Mccune-Albright Syndrome |
|
Blindness |
OMIM:174800 |
Retinitis Pigmentosa 86 |
|
Nyctalopia, Progressive visual loss |
OMIM:618613 |
Dermatoosteolysis, Kirghizian Type |
|
Nyctalopia |
ORPHA:1657 |
Momo Syndrome |
|
Blindness |
ORPHA:2563 |
Aica-Ribosuria Due To Atic Deficiency |
|
Congenital blindness |
OMIM:608688 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Nyctalopia, Visual field defect |
ORPHA:166035 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Blindness |
ORPHA:853 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Hypsarrhythmia, Dystonia |
ORPHA:521426 |
Xfe Progeroid Syndrome |
|
Blindness, Visual impairment |
OMIM:610965 |
Dpagt1-Cdg |
|
Ataxia, Aggressive behavior, Tremor, Nyctalopia, Head-banging, Hypsarrhythmia, Stereotypical body... |
ORPHA:86309 |
Isolated Complex I Deficiency |
|
Blindness, Ataxia |
ORPHA:2609 |
Norrie Disease |
|
Blindness, Aggressive behavior |
OMIM:310600 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Photophobia, Blindness |
OMIM:148210 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Lowry-Wood Syndrome |
|
Nyctalopia, Peripheral visual field loss |
OMIM:226960 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, EEG with generalized slow activity, Dysphagia, Cerebral visual impa... |
OMIM:618367 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Ataxia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss |
OMIM:209900 |
Meningioma |
|
Bitemporal hemianopia, Blindness, Ataxia, Slow decrease in visual acuity, Visual acuity test abno... |
ORPHA:2495 |
Joubert Syndrome 5 |
|
Congenital blindness, Ataxia, Reduced visual acuity, Aggressive behavior |
OMIM:610188 |
Cystinosis, Nephropathic |
|
Blindness, Oral-pharyngeal dysphagia, Reduced visual acuity, Photophobia, Dysphagia, Polydipsia, ... |
OMIM:219800 |
Mucoepithelial Dysplasia, Hereditary |
|
Photophobia, Blindness |
OMIM:158310 |
Mucopolysaccharidosis Type 2 |
|
Large central visual field defect, Hyperactivity, Impulsivity, Aggressive behavior, Decreased ner... |
ORPHA:580 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Xq21 Microdeletion Syndrome |
|
Ataxia, Reduced visual acuity, Peripheral visual field loss, Gait ataxia, Dysdiadochokinesis, Pro... |
ORPHA:1435 |
Arima Syndrome |
|
Blindness, Polydipsia, Ataxia |
OMIM:243910 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Webb-Dattani Syndrome |
|
Blindness |
OMIM:615926 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Myopia, Blindness, Amblyopia, Visual loss, Abnormality of vision |
ORPHA:2526 |
Dysosteosclerosis |
|
Blindness |
OMIM:224300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Myopia, Nyctalopia, Ring scotoma |
OMIM:616959 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Visual loss, Blindness, Amblyopia |
ORPHA:2250 |
Weill-Marchesani Syndrome 1 |
|
Blindness, High myopia |
OMIM:277600 |
Enhanced S-Cone Syndrome |
|
Hemeralopia, Nyctalopia |
OMIM:268100 |
Persistent Hyperplastic Primary Vitreous |
|
Blindness, Reduced visual acuity, Amblyopia |
ORPHA:91495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myopia, Exaggerated startle response, Hypermetropia |
OMIM:253800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Cogan Syndrome |
|
Photophobia, Blindness, Reduced visual acuity |
ORPHA:1467 |
Cancer-Associated Retinopathy |
|
Constriction of peripheral visual field, Photopsia, Visual loss, Central scotoma, Adult-onset nig... |
ORPHA:71505 |
Behçet Disease |
|
Blindness, Ataxia, Anorexia, Photophobia, Paresthesia |
ORPHA:117 |
Plasminogen Deficiency, Type I |
|
Blindness |
OMIM:217090 |
Hydranencephaly |
|
Abnormality of vision, Blindness, Opisthotonus |
ORPHA:2177 |
Saul-Wilson Syndrome |
|
Nyctalopia |
OMIM:618150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Myopia, Blindness |
OMIM:236670 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Blindness, Ataxia |
OMIM:252010 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Bardet-Biedl Syndrome 20 |
|
Hemeralopia, Nyctalopia, Constriction of peripheral visual field, Hypermetropia |
OMIM:619471 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Dysphagia |
OMIM:617527 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Nyctalopia, Peripheral visual field loss |
OMIM:250410 |
Weill-Marchesani Syndrome 2 |
|
Blindness, High myopia |
OMIM:608328 |
Corneodermatoosseous Syndrome |
|
Photophobia, Nyctalopia, Hemeralopia |
ORPHA:3194 |
Cryptococcosis |
|
Abnormality of vision, Blindness |
ORPHA:1546 |
Leprosy |
|
Blindness, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Paresthesia |
ORPHA:548 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Myopia, Blindness |
OMIM:225400 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Visual loss, Blindness, Amblyopia |
ORPHA:2556 |
Hepatoerythropoietic Porphyria |
|
Blindness, Paresthesia |
ORPHA:95159 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Nyctalopia, Constriction of peripheral visual field |
OMIM:619418 |
Osteoporosis-Pseudoglioma Syndrome |
|
Congenital blindness, Blindness |
OMIM:259770 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Blindness, Anorexia, Oral-pharyngeal dysphagia, Visual loss, Photophobia |
ORPHA:95455 |
Norrie Disease |
|
Blindness, Self-injurious behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... |
ORPHA:649 |
Congenital Erythropoietic Porphyria |
|
Blindness, Paresthesia |
ORPHA:79277 |
Stickler Syndrome |
|
Myopia, Blindness, Visual impairment |
ORPHA:828 |
Pierson Syndrome |
|
Blindness, High myopia |
OMIM:609049 |
Renpenning Syndrome 1 |
|
Blindness, Hypermetropia |
OMIM:309500 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Cerebral visual impairment, Hypermetropia, Dysphagia, Abnormality o... |
ORPHA:438213 |
Hyper-Igd Syndrome |
|
Nyctalopia |
OMIM:260920 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Nyctalopia, Peripheral visual field loss, Visual impairment |
ORPHA:217085 |
Fraser Syndrome 1 |
|
Blindness |
OMIM:219000 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Nyctalopia, Peripheral visual field loss, Visual impairment |
ORPHA:217093 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Blindness |
ORPHA:79078 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Hypermetropia, Attention deficit hyperactivity disorder, Dysphagia,... |
OMIM:619522 |
Menke-Hennekam Syndrome 1 |
|
Blindness, Hypermetropia |
OMIM:618332 |
17Q11 Microdeletion Syndrome |
|
Blindness, Progressive visual loss |
ORPHA:97685 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Blindness |
OMIM:615287 |
Fraser Syndrome |
|
Blindness |
ORPHA:2052 |
Sarcoidosis |
|
Blindness |
ORPHA:797 |
Microphthalmia, Syndromic 6 |
|
Myopia, Blindness |
OMIM:607932 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Nyctalopia |
OMIM:619321 |
Alström Syndrome |
|
Blindness, Somatic sensory dysfunction, Ataxia, Visual loss, Visual field defect, Photophobia, Po... |
ORPHA:64 |
Microphthalmia, Syndromic 1 |
|
Blindness, Self-mutilation, Aggressive behavior |
OMIM:309800 |