Persistent Idiopathic Facial Pain |
|
Paresthesia, Impaired pain sensation, Anxiety, Depression, Somatic sensory dysfunction |
ORPHA:398147 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Gait disturbance, Axonal loss, Abnormal auditory evoked potentials, Abnorma... |
OMIM:601455 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Abnormal electroretinogram |
OMIM:165510 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
Developmental And Epileptic Encephalopathy 56 |
|
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait |
OMIM:617665 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Emotional lability, Spastic ataxia |
OMIM:613672 |
Familial Alzheimer-Like Prion Disease |
|
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression |
ORPHA:280397 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ... |
ORPHA:320401 |
Spinocerebellar Ataxia Type 1 |
|
Impaired proprioception, Optic atrophy, Gait disturbance, Dystonia, Abnormality of somatosensory ... |
ORPHA:98755 |
Macular Dystrophy, Vitelliform, 4 |
|
Macular dystrophy, Vitelliform-like macular lesions, Decreased Arden ratio of electrooculogram, D... |
OMIM:616151 |
Stargardt Disease |
|
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... |
ORPHA:827 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
Occult Macular Dystrophy |
|
Macular dystrophy, Abnormal multifocal electroretinogram |
OMIM:613587 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Motor axonal ... |
ORPHA:1215 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Undetectable electroretinogram, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:610599 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Ataxia, Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram |
ORPHA:2246 |
Cln5 Disease |
|
Abnormality of visual evoked potentials, Dysmetria, Aggressive behavior, Hyperactivity, Inability... |
ORPHA:228360 |
Macular Dystrophy, Vitelliform, 2 |
|
Abnormal electroretinogram, Macular dystrophy, Subretinal fluid, Cystoid macular degeneration |
OMIM:153700 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... |
OMIM:601152 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Diffuse axonal swelling, Peripheral axonal neuropathy, Abnormality of visual evoke... |
ORPHA:35069 |
Chorea, Benign Hereditary |
|
Anxiety, Gait disturbance, Chorea |
OMIM:118700 |
Late-Infantile/Juvenile Krabbe Disease |
|
Gait disturbance, Acroparesthesia, Abnormality of visual evoked potentials, Loss of ambulation, D... |
ORPHA:206443 |
Optic Atrophy 1 |
|
Ataxia, Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials |
OMIM:165500 |
Ataxia With Vitamin E Deficiency |
|
Gait disturbance, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, D... |
ORPHA:96 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials, Abnorma... |
OMIM:125310 |
Friedreich Ataxia |
|
Impaired proprioception, Optic atrophy, Abnormality of visual evoked potentials, Decreased sensor... |
OMIM:229300 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Abnormality of somatosensory ev... |
ORPHA:52368 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Abnormal electroretinogram, Rod-cone dystrophy, Attenuation o... |
OMIM:609923 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Abnormality of visual evoked potentials, Abnormal electroretinogram, Decreased nerve cond... |
ORPHA:1933 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Abnormality of visual evoked potentials, Retinal degeneration, Aggressive behav... |
ORPHA:168491 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram, Gait disturbance |
ORPHA:2971 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy, Anxiety, Depression |
OMIM:614296 |
Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... |
OMIM:616648 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... |
ORPHA:66624 |
X-Linked Retinoschisis |
|
Retinoschisis, Abnormal electroretinogram |
ORPHA:792 |
Pelizaeus-Merzbacher Disease |
|
Dystonia, Optic atrophy, Abnormality of visual evoked potentials, Gait disturbance, Choreoathetos... |
ORPHA:702 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Decreased nerve conduction velo... |
ORPHA:309256 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Atax... |
OMIM:256600 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking |
OMIM:619191 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Abnormal electroretinogram, Rod-cone dystrophy, Attenuat... |
OMIM:613809 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Abnormal amplitude of patte... |
OMIM:125250 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Undetectable electroretinogram, Retinal degeneration, Decreased light- and dark-ad... |
OMIM:256730 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Gait disturbance, Violent behavior, Inertia, Chorea, Oromandibular dystonia, Focal... |
ORPHA:216873 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Peripheral axonal neuropathy, Ataxia, Anxiety, Depression, Difficulty walking |
OMIM:619425 |
Huntington Disease-Like 2 |
|
Dystonia, Chorea, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression |
OMIM:159900 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Anxiety, Optic disc pallor, Ataxia, Retinal thinning |
OMIM:618970 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials |
ORPHA:141 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Chorea, Ataxia, Anxiety, Depression |
ORPHA:401901 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Decreased nerve conduction velo... |
ORPHA:309263 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Orthostatic hypotension due to ... |
ORPHA:309271 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Huntington Disease-Like 1 |
|
Dysmetria, Chorea, Aggressive behavior, Unsteady gait, Anxiety, Depression |
OMIM:603218 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Abnormal electroretinogram |
OMIM:136900 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Undetectable electroretinogram, Retinal degeneration |
OMIM:204500 |
Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression |
OMIM:128235 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Undetectable electroretinogram, Ataxia, Inability to walk, Unsteady gait, Gait... |
ORPHA:1947 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Abnormal electroretino... |
OMIM:613194 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Undetectable electroretinogram, Decreased light- and dark-adapted electroretin... |
OMIM:613341 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal morphology of the chor... |
ORPHA:352731 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Anxiety, Paroxysmal choreoathetosis |
OMIM:602066 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension, Motor axonal neu... |
OMIM:231550 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Emotional lability, Anxiety, Gait ataxia, Depre... |
ORPHA:71517 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram |
ORPHA:1574 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Choreoathetosis, Decreased nerve conduction velocity, Emotional... |
ORPHA:98890 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Dystonia, Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram |
OMIM:616875 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Bradykinesia, Decreased amplitude of sensory action po... |
OMIM:619279 |
Retinal Cone Dystrophy 1 |
|
Abnormal electroretinogram, Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, Ataxia, Optic neuritis |
OMIM:165200 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Optic atrophy, Peripheral demyelination, Decreased nerve... |
OMIM:245200 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal electroretinogram, Fundus a... |
OMIM:613428 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuffling gait... |
ORPHA:412066 |
White-Sutton Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Self-injurious behavior, Rod-cone dystrop... |
OMIM:616364 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, Depression |
OMIM:604326 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Abnormal electroretinogram, Macular degeneration |
OMIM:607475 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Impaired pain sensation, Abnormality of visual evoked potentials |
ORPHA:314389 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:601718 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Usher Syndrome Type 3 |
|
Ataxia, Anxiety, Abnormal electroretinogram, Depression |
ORPHA:231183 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Dystonic gait |
ORPHA:480898 |
Infantile Krabbe Disease |
|
Optic atrophy, Inappropriate crying, Abnormality of visual evoked potentials, Cherry red spot of ... |
ORPHA:206436 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... |
ORPHA:436245 |
Joubert Syndrome 25 |
|
Ataxia, Abnormal electroretinogram |
OMIM:616781 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... |
ORPHA:909 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Undetectable visual evoked potentials, Limb ataxia, Truncal ataxia |
OMIM:619051 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Anxiety, Depression, Bradykinesia |
OMIM:605909 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Dysmetria, Chorea, Ataxia, Irritability, Anxiety, Gait ataxia, Depression |
OMIM:618093 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired proprioception, Optic atrophy, Attenuation of retinal blood vessels, Undetectable electr... |
OMIM:609033 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Abnormality of pattern visual evoked potentials |
ORPHA:357225 |
Metachromatic Leukodystrophy |
|
Dystonia, Gait disturbance, Abnormality of visual evoked potentials, Decreased nerve conduction v... |
ORPHA:512 |
Usher Syndrome Type 1 |
|
Ataxia, Anxiety, Abnormal electroretinogram, Depression |
ORPHA:231169 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormal electrooculogram, Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Retinoschisis Of Fovea |
|
Foveoschisis, Macular dystrophy, Abnormal electroretinogram, Rod-cone dystrophy |
OMIM:268080 |
Peho Syndrome |
|
Peripheral dysmyelination, Optic atrophy, Undetectable visual evoked potentials |
OMIM:260565 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram |
ORPHA:1871 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Undetectable electroretinogram, Peripapillary chorioretinal atrophy, Macular ede... |
OMIM:613750 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Abnormality of visual evok... |
ORPHA:485421 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Abnormal electroretinogram, Retinal degeneration |
OMIM:616211 |
Retinitis Pigmentosa 7 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Abnormal electroretinogram, Chorioretin... |
OMIM:608133 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Chorea, Apathy, Anxiety, Depression |
OMIM:615483 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Gait disturbance, Peripheral axonal neuropathy, Retinal degeneration, Orthostatic hypotension, At... |
ORPHA:2822 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram |
ORPHA:16 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Undetectable visual evoked potentials, Chorioretinal coloboma |
ORPHA:163961 |
Oculocutaneous Albinism Type 1A |
|
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... |
ORPHA:79431 |
Leukoencephalopathy With Ataxia |
|
Optic neuropathy, Abnormal chorioretinal morphology, Limb ataxia, Gait ataxia |
OMIM:615651 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Undetectable electroretinogram, Rod-cone dystrophy, Pigmenta... |
OMIM:615780 |
Rolandic Epilepsy |
|
Paresthesia, Dysesthesia, Emotional lability, Anxiety, Attention deficit hyperactivity disorder, ... |
ORPHA:1945 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Dysmetria, Aggressive behavior, Axonal degeneration, Bradykinesia, Ataxia, Dysdiadochok... |
OMIM:615157 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram |
ORPHA:3121 |
Retinitis Pigmentosa 4 |
|
Abnormal electroretinogram, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... |
ORPHA:2510 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Un... |
ORPHA:423479 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression |
OMIM:616398 |
Oligocone Trichromacy |
|
Abnormal electroretinogram |
ORPHA:75378 |
Mogs-Cdg |
|
Dystonia, Optic atrophy, Abnormality of visual evoked potentials, Absent brainstem auditory respo... |
ORPHA:79330 |
Ã…land Islands Eye Disease |
|
Abnormal electroretinogram, Hypopigmentation of the fundus, Hypoplasia of the fovea |
ORPHA:178333 |
Mpdu1-Cdg |
|
Undetectable visual evoked potentials, Optic atrophy |
ORPHA:79323 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Ataxia, Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram |
ORPHA:1173 |
Leber Optic Atrophy |
|
Leber optic atrophy, Optic atrophy, Optic neuropathy, Dystonia, Ataxia, Central retinal vessel va... |
OMIM:535000 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Night Blindness, Congenital Stationary, Type 1C |
|
Abnormal electroretinogram, Congenital stationary night blindness |
OMIM:613216 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Abnormality of visual evoked potentials |
OMIM:203700 |
Cockayne Syndrome A |
|
Peripheral dysmyelination, Optic atrophy, Gait disturbance, Abnormal peripheral myelination, Abno... |
OMIM:216400 |
Choroideremia |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram |
ORPHA:180 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dystonia, Anxiety, Chorea |
OMIM:606703 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Abnormal electroretinogram, Retinal degeneration |
OMIM:617173 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cherry red spot of the ... |
ORPHA:309246 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal electroretinogram, Retinal degeneration, Abnormality of pattern visual evoked potentials... |
ORPHA:166035 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormal electroretinogram, Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Perry Syndrome |
|
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... |
OMIM:168605 |
Multiple System Atrophy, Cerebellar Type |
|
Orthostatic hypotension due to autonomic dysfunction, Axial dystonia, Apathy, Bradykinesia, Progr... |
ORPHA:227510 |
Multiple System Atrophy, Parkinsonian Type |
|
Orthostatic hypotension due to autonomic dysfunction, Axial dystonia, Apathy, Bradykinesia, Progr... |
ORPHA:98933 |
Warburg Micro Syndrome 2 |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:614225 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... |
ORPHA:96369 |
Dentatorubral Pallidoluysian Atrophy |
|
Impaired proprioception, Optic neuropathy, Dyssynergia, Choreoathetosis, Dysmetria, Oromandibular... |
ORPHA:101 |
Cockayne Syndrome B |
|
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Abnormal auditory evok... |
OMIM:133540 |
Choreoacanthocytosis |
|
Dystonia, Progressive choreoathetosis, Aggressive behavior, Self-mutilation of tongue and lips du... |
OMIM:200150 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613810 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormal electroretinogram |
ORPHA:65 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Optic disc pallor, Undetectable electroretinogram, Bone spicule pigmentat... |
OMIM:612095 |
Burning Mouth Syndrome |
|
Impaired temperature sensation, Abnormality of somatosensory evoked potentials, Abnormal fifth cr... |
ORPHA:353253 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Abnormality of visual evoked potentials, Facial palsy |
ORPHA:258 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Undetectable electroretinogram, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:602772 |
Machado-Joseph Disease |
|
Dystonia, Abnormal electrooculogram, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Impaire... |
OMIM:109150 |
Mucolipidosis Type Iv |
|
Gait disturbance, Abnormality of retinal pigmentation, Ataxia, Abnormal electroretinogram, Retino... |
ORPHA:578 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia |
OMIM:606324 |
Usher Syndrome Type 2 |
|
Ataxia, Anxiety, Abnormal electroretinogram, Depression |
ORPHA:231178 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic neuropathy, Optic disc pallor, Ataxia, Undetectable visual evoked potentials, Lethargy |
OMIM:252010 |
Hermansky-Pudlak Syndrome |
|
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Ocular albinism |
ORPHA:79430 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal electroretino... |
ORPHA:791 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Optic atrophy, Abnormal electroretinogram |
ORPHA:1154 |
Joubert Syndrome 3 |
|
Ataxia, Retinal dystrophy, Abnormal electroretinogram, Pigmentary retinopathy |
OMIM:608629 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Undetectable electroretinogram, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:600132 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Abnormal electroretinogram |
OMIM:304700 |
Leigh Syndrome With Nephrotic Syndrome |
|
Undetectable visual evoked potentials |
ORPHA:255249 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal electroretino... |
ORPHA:1390 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Falls, Emotional lability, Anxiety, Difficulty walking |
ORPHA:3198 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Abnormal electroretinogram |
ORPHA:1369 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... |
ORPHA:364055 |
Cone-Rod Dystrophy 2 |
|
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... |
OMIM:120970 |
Van Den Bosch Syndrome |
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Abnormal electroretinogram, Choroideremia |
ORPHA:3417 |
Acute Zonal Occult Outer Retinopathy |
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Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
Autosomal Recessive Malignant Osteopetrosis |
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Optic nerve compression, Abnormality of visual evoked potentials |
ORPHA:667 |
Usher Syndrome |
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Abnormality of retinal pigmentation, Ataxia, Abnormal electroretinogram, Anxiety, Depression |
ORPHA:886 |
Porphyria Due To Ala Dehydratase Deficiency |
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Abnormal fear/anxiety-related behavior, Apathy, Anxiety, Depression, Difficulty walking |
ORPHA:100924 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinopathy, Chorioretinal atrop... |
ORPHA:5 |
Enhanced S-Cone Syndrome |
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Undetectable electroretinogram, Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinos... |
OMIM:268100 |
Peroxisome Biogenesis Disorder 3B |
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Retinal dystrophy, Abnormal electroretinogram, Rod-cone dystrophy |
OMIM:266510 |
Arthrogryposis, Distal, Type 5 |
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Abnormality of retinal pigmentation, Abnormal electroretinogram |
OMIM:108145 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Optic atrophy, Undetectable electroretinogram, Retinal degeneration, Retinal dysplasia, Decreased... |
OMIM:253280 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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Abnormal electroretinogram |
OMIM:614195 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Abnormal electroretinogram, Rod-cone dystrophy |
ORPHA:96181 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Abnormal electroretinogram, Retinal degeneration |
ORPHA:542306 |
Cockayne Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Peripheral axonal neuropat... |
ORPHA:191 |
Bardet-Biedl Syndrome |
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Abnormal electroretinogram, Pigmentary retinopathy |
ORPHA:110 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Optic disc pallor, Abnormal electroretinogram, Pigmentary retinopathy |
OMIM:214100 |
Neurofibromatosis Type 1 |
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Abnormality of retinal pigmentation, Chorioretinal coloboma, Plexiform neurofibroma, Spinal neuro... |
ORPHA:636 |
Degcags Syndrome |
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Abnormal electroretinogram |
OMIM:619488 |