Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Abnormal electroretinogram, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Difficulty walking, Abn... |
ORPHA:320401 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Segmental peripheral demyeli... |
OMIM:601455 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Macular Dystrophy, Vitelliform, 4 |
|
Drusen, Macular dystrophy, Decreased Arden ratio of electrooculogram, Vitelliform-like macular le... |
OMIM:616151 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysphagia, Bradykine... |
OMIM:601338 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram, Ataxia |
ORPHA:2246 |
Occult Macular Dystrophy |
|
Abnormal multifocal electroretinogram, Macular dystrophy |
OMIM:613587 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Abnormal retinal nerve fiber layer mo... |
ORPHA:1215 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal flash visual evoked potentials, Chorea, Impaired proprioception, Optic atrophy, Dysmetri... |
ORPHA:98755 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Abnormality of pattern visual evoked... |
ORPHA:1947 |
Usher Syndrome, Type I |
|
Rod-cone dystrophy, Abnormal electroretinogram, Undetectable electroretinogram |
OMIM:276900 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Abnormal electroretinogram, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Optic Atrophy 1 |
|
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Ataxia |
OMIM:165500 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... |
ORPHA:206443 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Peripheral axonal neuropathy, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G... |
ORPHA:35069 |
Mepan Syndrome |
|
Ataxia, Chorea, Optic atrophy, Gait disturbance, Dysphagia, Abnormality of visual evoked potentials |
ORPHA:508093 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Abn... |
ORPHA:96 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Optic atrophy, Limb ataxia, Gait a... |
OMIM:229300 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Abnormal electroretinogram, Retinal pigment epithelial atrophy, Attenuation o... |
OMIM:609923 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal electroret... |
ORPHA:1933 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Abnormality of visual ... |
OMIM:256600 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormal electroretinogram, Gait disturbance |
ORPHA:2971 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Abnormal amplitude of flash visual... |
ORPHA:168491 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
X-Linked Retinoschisis |
|
Retinoschisis, Abnormal electroretinogram |
ORPHA:792 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormal electroretinogram, Pseudobulbar paralysis, Gait disturbance, Abnormality of visual evoke... |
OMIM:125310 |
Retinitis Pigmentosa 39 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Abnormal electroretinogram, Attenuat... |
OMIM:613809 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Abnormal electroretinogram, Chorioretinal atrophy |
OMIM:136900 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Abnormal amplitude of pattern reversa... |
OMIM:125250 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Inability to walk, Optic atrophy, Shuffling gait, Attention ... |
ORPHA:52368 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Optic atrophy, Depression, Irritability, Macular degeneration, Decreased light- and dark-... |
OMIM:256730 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Abnormality of visual evoked potentials |
ORPHA:702 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Sensory a... |
OMIM:620221 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration, Ataxia, Undetectable electroretinogram |
OMIM:204500 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Falls, Decreased light- and dark-adapted electroretinogram ... |
OMIM:613341 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Impaired pain sensation, Bulimia, Agitation, Abnormality of visual evoked pote... |
ORPHA:314389 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy |
ORPHA:1574 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Abnormal electroretinogram, Retinal flecks, Rod-cone dystr... |
OMIM:613194 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Abn... |
OMIM:231550 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Abnormal electroretinogram, Rod-cone dys... |
OMIM:613428 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Abnormal electroretinogram, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Depression, Progressive gait ataxia, ... |
ORPHA:309271 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Abnormality of visua... |
ORPHA:309263 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Peri... |
OMIM:245200 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Dysphagia, Abnormality of ... |
ORPHA:485421 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Abnormal electroretinogram, Retinal dystrophy |
OMIM:607475 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Abnormal electroretino... |
OMIM:616364 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:601718 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Undetectable visual evoked potentials, Limb ataxia, Truncal ataxia |
OMIM:619051 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Joubert Syndrome 25 |
|
Abnormal electroretinogram, Ataxia |
OMIM:616781 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy, Dystonic gait |
ORPHA:480898 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram, Optic atrophy |
OMIM:616875 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Undetectable visual evoked potentials, Chorioretinal coloboma, Dysphagia |
ORPHA:163961 |
Peho Syndrome |
|
Undetectable visual evoked potentials, Optic atrophy, Peripheral dysmyelination |
OMIM:260565 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... |
ORPHA:436245 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Bone spicule pigmentation of the retina, Ataxia, Decreased sensory nerve conduc... |
OMIM:609033 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Abnormal electrooculogram |
OMIM:179840 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Abnormality of pattern visual evoked potentials |
ORPHA:357225 |
Retinitis Pigmentosa 7 |
|
Abnormal electroretinogram, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:608133 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram |
ORPHA:1871 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Abnormal electroretinogram, Pigmentary ... |
OMIM:613731 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Inability to walk, Abnormality of ... |
ORPHA:2822 |
Usher Syndrome Type 3 |
|
Abnormal electroretinogram, Ataxia, Depression |
ORPHA:231183 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Tip-toe gait, Gait disturbance, Abnormality of visua... |
ORPHA:512 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Aggr... |
ORPHA:909 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram |
ORPHA:16 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Oculocutaneous Albinism Type 1A |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Ocular albinism, Abnormal optic... |
ORPHA:79431 |
Usher Syndrome Type 1 |
|
Abnormal electroretinogram, Ataxia, Depression |
ORPHA:231169 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Cln3 Disease |
|
Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depression, Bradykinesia, Pig... |
ORPHA:228346 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... |
ORPHA:423479 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram |
ORPHA:3121 |
Retinitis Pigmentosa 93 |
|
Rod-cone dystrophy, Retinal dots, Undetectable electroretinogram |
OMIM:619845 |
Micro Syndrome |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... |
ORPHA:2510 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Ã…land Islands Eye Disease |
|
Hypoplasia of the fovea, Abnormal electroretinogram, Hypopigmentation of the fundus |
ORPHA:178333 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal electroretinogram, Ataxia |
ORPHA:1173 |
Oligocone Trichromacy |
|
Abnormal electroretinogram |
ORPHA:75378 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy, Undetectable electro... |
OMIM:615780 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Undetectable elec... |
OMIM:600105 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Mpdu1-Cdg |
|
Undetectable visual evoked potentials, Optic atrophy |
ORPHA:79323 |
Night Blindness, Congenital Stationary, Type 1C |
|
Congenital stationary night blindness, Abnormal electroretinogram |
OMIM:613216 |
Choroideremia |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram |
ORPHA:180 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Abnormal electroretinogram, Retinal degeneration |
OMIM:617173 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Ab... |
OMIM:193235 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Abnormal electroretinogram, ... |
ORPHA:166035 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Facial palsy |
ORPHA:2743 |
Cockayne Syndrome A |
|
Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, De... |
OMIM:216400 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Inability to walk, Facial palsy, Dysphagia |
ORPHA:258 |
Mogs-Cdg |
|
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy |
ORPHA:79330 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Ataxia, Abnormal electrooculogram, Limb ataxia, Dysphagia, Bradykin... |
OMIM:109150 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Abnormal electroretinogram, Pigmentar... |
OMIM:613810 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Abnormal electroretinogram |
ORPHA:65 |
Cockayne Syndrome B |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:133540 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Optic atrophy, Undetectable visual evoked potentials, Irritability |
OMIM:259720 |
Warburg Micro Syndrome 2 |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:614225 |
Hermansky-Pudlak Syndrome |
|
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Anorexia, Ocular albinism |
ORPHA:79430 |
Leber Optic Atrophy |
|
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... |
OMIM:535000 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Ataxia, Abnormal electroretinogram, Gait disturbance, Retino... |
ORPHA:578 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Ataxia, Optic neuropathy, Undetectable visual evoked potentials, Lethargy |
OMIM:252010 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Abnormal electroretinogram, Rod-co... |
OMIM:613767 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Choreoath... |
ORPHA:101 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal electroretino... |
ORPHA:791 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Abnormal electroretinogram, Optic atrophy |
ORPHA:1154 |
Gm2 Gangliosidosis, Ab Variant |
|
Cherry red spot of the macula, Abnormal fear-induced behavior, Chorea, Inappropriate behavior |
ORPHA:309246 |
Developmental And Epileptic Encephalopathy 28 |
|
Abnormal electroretinogram, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials, Ataxia |
OMIM:203700 |
Van Den Bosch Syndrome |
|
Choroideremia, Abnormal electroretinogram |
ORPHA:3417 |
Usher Syndrome Type 2 |
|
Abnormal electroretinogram, Ataxia, Depression |
ORPHA:231178 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Abnormal electroretinogram, Ataxia, Retinal dystrophy |
OMIM:608629 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal electroretino... |
ORPHA:1390 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Abnormal electroretinogram |
ORPHA:1369 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal electroretinogram, Dysphagia |
OMIM:304700 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials, Optic nerve compression |
ORPHA:667 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Abnormal electroretinogra... |
ORPHA:5 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinal fold |
OMIM:108145 |
Enhanced S-Cone Syndrome |
|
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis, Undetectable electroreti... |
OMIM:268100 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Ataxia, Depression |
ORPHA:886 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Retinal degeneration, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia... |
OMIM:253280 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal electroretinogram |
OMIM:614195 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Abnormal electroretinogram, Retinal degeneration |
ORPHA:542306 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Rod-cone dystrophy, Abnormal electroretinogram |
ORPHA:96181 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Unsteady gait, Abnormal electroretinogram, Pigmentary retinopathy, Dysphagia, ... |
OMIM:214100 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy, Abnormal electroretinogram |
ORPHA:110 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Somatic sensory dysfunction, Retinal atrophy, Ataxia, Retina... |
ORPHA:191 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Ataxia, Abnormal electroretinogram, Pheochromocytoma, Parest... |
ORPHA:636 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Congenital Fibrosis Of Extraocular Muscles |
|
Abnormal electroretinogram, Optic nerve hypoplasia |
ORPHA:45358 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Degcags Syndrome |
|
Abnormal electroretinogram, Oral-pharyngeal dysphagia, Choking episodes |
OMIM:619488 |