Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... |
OMIM:615113 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Ptosis |
OMIM:620086 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Impulsivity, Tremor, Optic atrophy, Depression, Focal dystonia, Irritability, Gait... |
ORPHA:216873 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Hemidystonia, Optic atrophy, Bradykinesia, Spastic gait |
OMIM:619052 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
Spastic Ataxia 7, Autosomal Dominant |
|
Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Loss of ambulation, Rod-cone dystrophy, Optic atrophy, Ataxia |
OMIM:609055 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma |
OMIM:611638 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Dystonia, Optic atrophy, Dysphagia |
OMIM:271930 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy, Gait disturbance |
OMIM:615043 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Unilateral ptosis, Hyperactivity, Optic atrophy |
OMIM:300928 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... |
OMIM:619470 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Optic atrophy |
OMIM:618572 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614706 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Optic atrophy, Ataxia, Dysphagia |
ORPHA:1171 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:617830 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy, Depression |
OMIM:614296 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy |
OMIM:615658 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Inappropriate laughter, Gait ataxia |
OMIM:619323 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Hyperactivity, Optic atrophy, Lethargy |
OMIM:274270 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Inability to walk,... |
OMIM:619389 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Telecanthus, Anophthalmia, Inability to walk, Synophrys, Long eyelashes, Abnormal repetitive mann... |
ORPHA:411986 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Dysphagia, Intention tremor |
OMIM:620221 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Ataxia, Bilateral ptosis, Optic atrophy, Depression, Dysphagia, Sensory axonal neuropathy |
ORPHA:329314 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... |
OMIM:309548 |
Spinocerebellar Ataxia 7 |
|
Tremor, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cereb... |
OMIM:164500 |
Fraxe Intellectual Disability |
|
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... |
ORPHA:100973 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Optic atrophy, Gait disturbance |
OMIM:616859 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:2572 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty walking |
OMIM:619425 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
Leber Optic Atrophy And Dystonia |
|
Dystonia, Optic atrophy, Bradykinesia, Athetosis, Leber optic atrophy, Dysphagia |
OMIM:500001 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels |
OMIM:614504 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Optic atrophy, Depression, Irritability, Macular degeneration, Retinal degeneration |
OMIM:256730 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Emotional lability |
OMIM:613672 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Facial palsy, Abnormal retinal morphology, Action tremor, Optic atrophy, Depression, Brad... |
ORPHA:254886 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Choreoathetosis, Dysphagia, Retinopathy, Self-m... |
OMIM:619422 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Tremor, Optic atrophy, Bradykinesia, Abnormal autonomic nervous system physi... |
ORPHA:329284 |
Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Optic atrophy, Irritability, Long eyelashes, Long palpebral fissure |
ORPHA:411493 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity |
ORPHA:104 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Dysdiad... |
ORPHA:254881 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Orbital craniosynostosis |
ORPHA:1538 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... |
OMIM:204100 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Truncal ataxia |
OMIM:611726 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms, Thin eyebrow |
OMIM:619690 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy, Spastic gait |
ORPHA:320396 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dystonia, Optic atrophy, Irritability, Pigmentary retinopathy, Dysphagia, Rod-cone dystrophy |
OMIM:264470 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia |
OMIM:617086 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Bilateral ptosis, Optic atrophy, Difficulty walking... |
ORPHA:330050 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Wolfram-Like Syndrome |
|
Progressive cerebellar ataxia, Peripheral axonal neuropathy, Optic atrophy, Depression |
ORPHA:411590 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ptosis, Ataxia, Facial palsy, Aggressive behavior, Tremor, Abnormality of macu... |
ORPHA:97229 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypopl... |
ORPHA:33445 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Optic atrophy, Choreoathetosis, Agitation, Retinal degeneration |
OMIM:300438 |
Camos Syndrome |
|
Optic atrophy, Ataxia |
ORPHA:83472 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Irritability, Optic atrophy |
OMIM:609056 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,... |
ORPHA:216866 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Eyelid coloboma, Anophthalmia, Orbital cyst |
OMIM:164180 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral ptosis, Inability to walk, Optic atrophy, Downslanted palpebral fissures |
OMIM:619701 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Irritability, Dystonia, Ab... |
ORPHA:457205 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Xq25 Microduplication Syndrome |
|
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Abnormality of the palpebral fi... |
ORPHA:521258 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Optic atrophy, Truncal ataxia, Dysmetria, Hypoplastic optic chiasm... |
OMIM:210000 |
Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irritability, Lethargy |
ORPHA:314911 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacun... |
OMIM:152950 |
Nescav Syndrome |
|
Inability to walk, Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:614255 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
OMIM:611038 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... |
OMIM:311070 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia |
ORPHA:1186 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Athetosis, Dysphagia, Impaired oral bolus formation, Ptosis |
OMIM:617235 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir... |
ORPHA:644 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... |
ORPHA:248111 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Ptosis |
ORPHA:1473 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning, Ataxia |
OMIM:618970 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Emotional lability, Progressive gait ataxia, Optic atrophy, Progressive cerebellar ataxia |
ORPHA:254343 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Merrf |
|
Optic atrophy, Ataxia |
ORPHA:551 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Pseudobulbar paralysis, Attenuation of retinal blood vessels |
OMIM:617082 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Self-mu... |
OMIM:615075 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Dystonia, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait at... |
OMIM:601338 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrophy, Retinal degeneration |
OMIM:204200 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Inability to walk, Optic atrophy |
OMIM:618768 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Tremor, Unsteady gait, Optic atrophy, Attention deficit hyperactivity disord... |
ORPHA:442835 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Loss of ambulation |
OMIM:618241 |
Trisomy 13 |
|
Anophthalmia, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Optic atrophy, A... |
ORPHA:3378 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Anencephaly 2 |
|
Anophthalmia, Short palpebral fissure |
OMIM:619452 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy |
OMIM:616171 |
Hsd10 Disease |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia |
ORPHA:391417 |
Walker-Warburg Syndrome |
|
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno... |
ORPHA:899 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... |
OMIM:610743 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:618362 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Optic atrophy |
OMIM:620312 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... |
ORPHA:309246 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Leber Congenital Amaurosis 14 |
|
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Optic atrophy, Athetosis, Dystonia, Self-mutilation |
OMIM:250950 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Telecanthus, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy, Highly arched eyebrow |
OMIM:617121 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal... |
OMIM:609541 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic disc pallor, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Compulsive behaviors |
OMIM:615722 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Unsteady gait, Optic atrophy |
OMIM:620314 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Ataxia |
ORPHA:85297 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Optic atrophy, Irritability, Dysphagia, Lethargy, Ptosis |
OMIM:618226 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... |
OMIM:617166 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy... |
ORPHA:1021 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:3151 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Dystonia |
OMIM:615924 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Optic disc pallor, Dystonia, Dysphagia |
OMIM:618230 |
Pontocerebellar Hypoplasia, Type 9 |
|
Peripheral axonal neuropathy, Dystonia, Optic atrophy, Irritability, Dysphagia, Downslanted palpe... |
OMIM:615809 |
Joubert Syndrome 21 |
|
Anophthalmia, Ataxia, Optic atrophy, Megalopapilla, Dysphagia, Retinopathy, Ptosis |
OMIM:615636 |
Chromosome Xq25 Duplication Syndrome |
|
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Thick eyebrow |
OMIM:300979 |
Sarcosinemia |
|
Emotional lability, Optic atrophy, Ataxia |
ORPHA:3129 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Irritability, Optic atrophy, Dystonia |
OMIM:618237 |
Cln3 Disease |
|
Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depression, Bradykinesia, Pig... |
ORPHA:228346 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure |
ORPHA:66625 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:139471 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:617207 |
Chromosome 19P13.13 Deletion Syndrome |
|
Downslanted palpebral fissures, Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anophthalmia, Ataxia, Tremor, Optic atrophy, Pigmentary reti... |
ORPHA:90321 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys... |
OMIM:617964 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Dystonia, Ataxia, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Atheto... |
OMIM:617282 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia |
OMIM:617954 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Dystonia, Emotional lability, Ptosis |
OMIM:256000 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Optic atrophy, Ataxia, Dystonia |
OMIM:619310 |
3-Methylglutaconic Aciduria, Type Ix |
|
Choreoathetosis, Long eyelashes, Optic atrophy, Aggressive behavior |
OMIM:617698 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... |
ORPHA:157850 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia,... |
ORPHA:98755 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Postural tremor, Inability to walk by childhood/adolescence, Optic atrophy, Hand t... |
ORPHA:99947 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Torticollis, Dysphagia |
OMIM:619686 |
Gand Syndrome |
|
Hyperactivity, Narrow palpebral fissure, Tics, Inappropriate laughter, Blepharophimosis |
OMIM:615074 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Peroxisome Biogenesis Disorder 8B |
|
Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Limb tremor, Dysmetria, Gait ataxia, Tip... |
OMIM:614877 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Irritability, Cherry red spot of the macula, Ataxia, Optic disc pallor |
OMIM:615281 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait |
ORPHA:99013 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Epicanthus, Ataxia, Unsteady gait, Optic atrophy, Dystonia |
OMIM:245349 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Ataxia |
OMIM:258501 |
Spastic Paraplegia 2, X-Linked |
|
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria |
OMIM:312920 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Choreoathetosis, Dystonia, Optic atrophy, Ptosis |
OMIM:618238 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, ... |
ORPHA:289560 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Dysphagia |
OMIM:614707 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia |
OMIM:616732 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor |
OMIM:618688 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking, Dystonia... |
ORPHA:401768 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Optic atrophy, Gait disturbance, Emotional lability, Lethargy |
OMIM:603896 |
Lamb-Shaffer Syndrome |
|
Epicanthus, Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive m... |
ORPHA:530983 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria |
OMIM:605259 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:607694 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ... |
ORPHA:289494 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Impulsivity, Tremor, Optic ... |
OMIM:614298 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dysphagia, Ptosis |
OMIM:617664 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dystonia, Facial palsy, Bilateral ptosis, Optic atrophy, Truncal ataxia, Limb ataxia, Depression,... |
OMIM:258450 |
Anophthalmia Plus Syndrome |
|
Blepharophimosis, Eyelid coloboma, Anophthalmia |
ORPHA:1104 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia |
OMIM:617810 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Optic atrophy, Retinal dystrophy, Anorexia |
ORPHA:49827 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, O... |
ORPHA:52368 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Optic atrophy, Pigmentary retinopathy, Truncal ataxia, Ptosis |
OMIM:252011 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Optic atrophy, Dysphagia, Gait disturbance, Limb ... |
ORPHA:508093 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... |
OMIM:617302 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614559 |
Leber Optic Atrophy |
|
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... |
OMIM:535000 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Abnormal emotion, Lethargy, Depression |
ORPHA:238624 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss ... |
ORPHA:225154 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... |
ORPHA:363429 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... |
OMIM:271245 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Titubation... |
ORPHA:98768 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Peripheral axonal neuropathy, Ataxia, Dystonia, Impulsivity, Unsteady gait, Optic ... |
ORPHA:35069 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Akinesia, Retinal degeneration, Tremor, Optic at... |
OMIM:234200 |
Leukodystrophy, Hypomyelinating, 15 |
|
Dystonia, Ataxia, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation, Intention tremor |
OMIM:617951 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Ptosis |
OMIM:125250 |
Norrie Disease |
|
Retinal detachment, Aggressive behavior, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Reti... |
OMIM:310600 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Dysphagia |
ORPHA:1177 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Upslanted palpebral fissure, Difficulty walking, Dy... |
OMIM:617807 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Bilateral ptosis, Optic atrophy, Abnormal retinal ne... |
ORPHA:1215 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Optic atrophy, Dystonia |
ORPHA:26792 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Epicanthus, Optic nerve hypoplasia, Upslanted palpebral fissure, Narrow palpebral ... |
ORPHA:363686 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Blep... |
OMIM:608643 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, O... |
ORPHA:141099 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Epicanthus, Telecanthus, Aggressive behavior, Almond-shaped palpebral fissure, Dow... |
OMIM:620292 |
Sclerosteosis |
|
Optic atrophy, Facial palsy, Ptosis |
ORPHA:3152 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Depression, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Emotional l... |
ORPHA:79264 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Hooded eyelid, Aggressive behavior, Depression, Self-injurious behavior, Compulsiv... |
OMIM:619467 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos |
ORPHA:2717 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Optic atrophy, Irritability, Difficulty walking, Dystonia |
ORPHA:79097 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdia... |
OMIM:610217 |
Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Hyperactivity, Epicanthus, Highly arched eyebrow, Aggressive behav... |
OMIM:301069 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic ... |
ORPHA:401777 |
Arts Syndrome |
|
Optic atrophy, Ataxia, Dysphagia |
OMIM:301835 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Abnormal eyelash morphology, Blepharophimosis, Microphthalmia, Downslanted palpebra... |
OMIM:206920 |
Myopathy With Extrapyramidal Signs |
|
Epicanthus, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Tremor, Optic atrophy, Choreoath... |
OMIM:615673 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Ataxia, Gait disturbance, Conjunctivitis, Difficulty walking |
ORPHA:90322 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior |
OMIM:615541 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:616204 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Irritability |
ORPHA:401866 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Optic atrophy, Choreoathetosis, Dystonia, Lethargy |
ORPHA:79312 |
Developmental And Epileptic Encephalopathy 48 |
|
Long palpebral fissure, Optic disc pallor, Rod-cone dystrophy, Long eyelashes |
OMIM:617276 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... |
OMIM:312080 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Blepharonasofacial Malformation Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Torsion dystonia, Blepharoph... |
ORPHA:1252 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Irritability, Long eyelashes, Optic disc pallor, Ptosis |
OMIM:619076 |
Congenital Hydrocephalus |
|
Downslanted palpebral fissures, Optic atrophy, Macular hypoplasia |
ORPHA:2185 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dysphagia |
ORPHA:1947 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Dystonia |
OMIM:612319 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... |
OMIM:607259 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Optic atrophy, Aggressive behavior |
ORPHA:369939 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Dysmetria, Athetosis,... |
OMIM:617710 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Intention tremor, Progressive cerebellar ataxia, Optic atrophy, Gait ataxia |
ORPHA:466794 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Irritability, Optic atrophy |
OMIM:607196 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Optic atrophy, Dysphagia, Self-injurious behavior, Chorioretinal coloboma, Attention ... |
ORPHA:494344 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
3-Methylglutaconic Aciduria Type 9 |
|
Optic atrophy, Aggressive behavior |
ORPHA:505216 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Nasolacrimal duct... |
ORPHA:440727 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Optic atrophy, Choreoathetosis, Dysphagia, Loss of ambulation, Rod-cone d... |
ORPHA:391428 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis, Ptosis |
OMIM:613559 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Optic atrophy, Dysmetria,... |
ORPHA:95 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... |
OMIM:608804 |
Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atrophy, Upslanted palpebral fissu... |
OMIM:617183 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Optic atrophy, Pigmentary retinopathy, Dysphagia, Ptosis |
OMIM:222300 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Optic atrophy, Depression |
OMIM:248000 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Dystonia |
OMIM:252650 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia |
OMIM:618233 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Holoprosencephaly |
|
Epicanthus, Anophthalmia, Highly arched eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fi... |
ORPHA:2162 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos |
OMIM:248450 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Upslanted palpebral fissure, Synophrys, Optic atrophy, Thick eyebrow |
OMIM:618737 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrophy, Intent... |
OMIM:612674 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Peripheral axonal neuropathy, Tremor, Unsteady gait, Optic atrophy, Progressive c... |
ORPHA:137898 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Progressive cerebellar ataxia, Dystonia, Optic atrophy, Dysphagia |
OMIM:618868 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Retinal detachment, Ataxia, Aggressive behavior, Optic atrophy, Up... |
OMIM:619833 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Dystonia |
OMIM:612438 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... |
OMIM:609033 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Abnormal size of the palpebral fissures, Abnormal vitreous humor morphology, Abnorm... |
ORPHA:1101 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, I... |
OMIM:614381 |
Pontocerebellar Hypoplasia, Type 16 |
|
Ptosis, Optic atrophy, Dysphagia |
OMIM:619527 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Dysmetria, Depression, Pigmentary retinopathy, Progressive cerebellar ... |
ORPHA:502423 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Irritability, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Bulimia, Optic atrophy |
OMIM:614651 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Self-inj... |
ORPHA:228402 |
Developmental And Epileptic Encephalopathy 28 |
|
Epicanthus, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dystonia, Ataxia, Postural tremor, Optic atrophy, Dysmetria, Autonomic bladder dysfunction, Dysph... |
ORPHA:447896 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Restlessness, Optic disc pallor, Optic atrophy, Self-biting, Athetosis |
OMIM:614388 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... |
ORPHA:254930 |
Joubert Syndrome 14 |
|
Epicanthus, Ataxia, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Irritability, Mi... |
OMIM:614424 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy, Dysphagia |
ORPHA:137867 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Ptosis |
OMIM:605627 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Optic atrophy, Gait ataxia |
OMIM:618800 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Long eyelashes, Dysphagia, Ptosis |
OMIM:617301 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Upslanted palpebral fissure, Hyperactivity, Impulsivity, Synophrys |
OMIM:300143 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Optic atrophy, Long eyelashes, Thick eyebrow |
OMIM:617281 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... |
OMIM:619260 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ... |
ORPHA:168491 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Upslanted palpebral fissure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive ... |
OMIM:301013 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Dystonia, Emotional... |
OMIM:250100 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Epicanthus, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agi... |
OMIM:618056 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Epicanthus, Torticollis, Ataxia, Optic atrophy, Unilateral facial palsy, Rod-cone dystrophy |
OMIM:618547 |
Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Ataxia, Morning glory anomaly, Optic atrophy, Gait disturbance, Dysphagia, Temporal optic disc pa... |
ORPHA:98673 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy, Ataxia |
OMIM:618248 |
Trisomy 1Q |
|
Anophthalmia, Downslanted palpebral fissures |
ORPHA:261344 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Epicanthus, Anophthalmia, Downslanted palpebral fissures, Ptosis |
ORPHA:264200 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Lethargy, Optic atrophy, Dystonia |
ORPHA:289916 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Optic atrophy, Depression, Progressive gait ataxia, Falls, Dysphagia, Loss ... |
ORPHA:329308 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Optic atrophy, Dysphagia, Opisthotonus, Dystonia |
OMIM:277470 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Athetosis, Dystonia, Self-mutilation, Ptosis |
ORPHA:52503 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking |
ORPHA:529665 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Steppage gai... |
OMIM:616505 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Irritability, Dysphagia, Loss of ambulation, Craniofacial dystonia |
OMIM:618253 |
X-Linked Intellectual Disability, Najm Type |
|
Gait disturbance, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Epicanthus, Retinal dystrophy, Ataxia, Highly arched eyebrow, A... |
OMIM:213300 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Long eyelashes, Microphthalmia, Cryptophthalmos |
OMIM:615877 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy, Ptosis |
ORPHA:44 |
Charge Syndrome |
|
Ptosis, Epicanthus, Anophthalmia, Facial palsy, Highly arched eyebrow, Optic atrophy, Eyelid colo... |
ORPHA:138 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Chorioretinal dystrophy, Epicanthus, Telecanthus, Optic atrophy, Upslanted palpeb... |
ORPHA:2707 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... |
OMIM:617865 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Epicanthus, Aggressive behavior, Optic atrophy, Downslanted palpebral fissures, Di... |
OMIM:123450 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Optic atrophy, Facial palsy |
OMIM:615085 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:1173 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Isolated Atp Synthase Deficiency |
|
Ataxia, Optic atrophy, Dystonia, Lethargy, Rod-cone dystrophy, Ptosis |
ORPHA:254913 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Depr... |
ORPHA:845 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Ataxia, Optic atrophy, Retinal degeneration |
OMIM:249270 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Tru... |
OMIM:619259 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Upslanted palpe... |
ORPHA:496790 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Downslanted palpebral fissures |
ORPHA:3173 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Epicanthus, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperact... |
OMIM:620242 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Long eyelashes, Downslanted palpebral fis... |
OMIM:617523 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Ab... |
ORPHA:2556 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Developmental And Epileptic Encephalopathy 31B |
|
Almond-shaped palpebral fissure, Optic atrophy, Opisthotonus, Irritability, Choking episodes, Lon... |
OMIM:620352 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Ataxia, Postural tremor, Head titubation, Optic atrophy, Opto-chiasmatic atrophy, Dysmetria, Loss... |
OMIM:615491 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand tremor, Step... |
ORPHA:101076 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy, Ptosis |
OMIM:612291 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Sparse eyelashes, Sparse eyebrow, Inability to walk, Tremor, Optic atrophy, Dys... |
OMIM:617988 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Epicanthus, Fundus atrophy, Synophrys, Optic atrophy, Thick eyebrow |
ORPHA:1970 |
Neuronal Intranuclear Inclusion Disease |
|
Optic atrophy, Ataxia |
ORPHA:2289 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia |
OMIM:618249 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Optic disc pallor |
OMIM:613730 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Abnormal optic nerve morphology |
ORPHA:3412 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Truncal ataxia, Dysm... |
OMIM:164400 |
Spastic Paraplegia Type 2 |
|
Optic atrophy, Spastic gait, Ataxia |
ORPHA:99015 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Lethargy, Optic atrophy, Ataxia |
ORPHA:27 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Birk-Landau-Perez Syndrome |
|
Optic atrophy, Limb ataxia, Upslanted palpebral fissure, Choreoathetosis, Long eyelashes, Difficu... |
OMIM:617595 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Epicanthus, Optic atrophy, Gait disturbance |
ORPHA:2971 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Buphth... |
ORPHA:99956 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Optic disc pallor, Thick eyebrow, Dystonia |
OMIM:617762 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Epicanthus, Telecanthus, Ataxia, Broad-based gait, Exaggerated startle response, Upslanted palpeb... |
ORPHA:438216 |
Xq12-Q13.3 Duplication Syndrome |
|
Epicanthus, Optic disc pallor, Bulimia, Agitation |
ORPHA:314389 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Dystonia, Optic atrophy, Hypoplastic optic chiasm, Dysphagia |
OMIM:617669 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
2P15P16.1 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Optic nerve hypoplasia, Facial palsy, Sparse eyebrow, Optic atrophy, Lon... |
ORPHA:261349 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Difficult... |
ORPHA:95433 |
Meningococcal Meningitis |
|
Irritability, Papilledema, Lethargy, Anorexia |
ORPHA:33475 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Low frustration tolerance, Abnormal temper tantrums, ... |
ORPHA:163681 |
Pontocerebellar Hypoplasia, Type 2E |
|
Irritability, Epicanthus, Optic atrophy, Opisthotonus |
OMIM:615851 |
Aniridia 2 |
|
Aniridia, Optic atrophy |
OMIM:617141 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... |
ORPHA:3205 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Rod-cone dystrophy, Synophrys, Dysphagia |
OMIM:252930 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Pettigrew Syndrome |
|
Aggressive behavior, Optic atrophy, Gait ataxia, Choreoathetosis, Self-injurious behavior, Stereo... |
OMIM:304340 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia, Microphthalmia |
OMIM:253800 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Axona... |
OMIM:601152 |
Meckel Syndrome |
|
Anophthalmia, Abnormal chorioretinal morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, M... |
ORPHA:564 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia |
ORPHA:702 |
Juvenile Sialidosis Type 2 |
|
Ataxia, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation, Cherry red spot of the macula |
ORPHA:93399 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy |
OMIM:616811 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Dystonia, Emotional ... |
ORPHA:309263 |
Stankiewicz-Isidor Syndrome |
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Hyperactivity, Abnormal optic disc morphology |
OMIM:617516 |
Microphthalmia, Syndromic 9 |
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Blepharophimosis, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Epicanthus, Ataxia, Optic atrophy, Long eyelashes, Inappropriate laughter, Difficulty walking |
OMIM:618476 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
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Dystonia, Optic atrophy, Increased cup-to-disc ratio, Dysphagia |
ORPHA:500144 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Laterally curved eyebr... |
OMIM:300166 |
19P13.13 Microdeletion Syndrome |
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Epicanthus, Optic nerve hypoplasia, Optic atrophy, Long eyelashes, Attention deficit hyperactivit... |
ORPHA:357001 |
Xeroderma Pigmentosum, Complementation Group B |
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Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microphthalmia |
OMIM:610651 |
Trichothiodystrophy 4, Nonphotosensitive |
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Epicanthus, Sparse eyelashes, Optic atrophy, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:234050 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Ataxia, Optic atrophy, Dysmetria, Depression, Pigmentary retinopathy, Rod-cone dystrophy, Spastic... |
ORPHA:96180 |
Metachromatic Leukodystrophy, Adult Form |
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Decreased nerve conduction velocity, Optic atrophy, Depression, Progressive gait ataxia, Difficul... |
ORPHA:309271 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Choreoa... |
ORPHA:2715 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Dystonia, Ataxia, Sparse eyebrow, Optic atrophy, Upslanted palpebral fissure, Dysphagia, Abnormal... |
ORPHA:496641 |
Fibular Hemimelia |
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Anophthalmia, Difficulty walking |
ORPHA:93323 |
Alpha-Mannosidosis, Adult Form |
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Optic disc pallor, Ataxia, Depression |
ORPHA:309288 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Optic atrophy, Ataxia, Depression |
OMIM:604121 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
Dilated Cardiomyopathy With Ataxia |
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Ataxia, Repetitive compulsive behavior, Optic atrophy, Dystonia, Action tremor |
ORPHA:66634 |
Microphthalmia With Limb Anomalies |
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Abnormal eyebrow morphology, Optic atrophy, Blepharophimosis, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Tay-Sachs Disease |
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Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysphagia |
ORPHA:485421 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Resting tremor, Ataxia, Abnormal auditory evoked potentials, Aggressive behavi... |
ORPHA:909 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Ptosis |
ORPHA:436271 |
Osteopetrosis, Autosomal Recessive 4 |
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Optic disc pallor, Optic atrophy, Facial palsy |
OMIM:611490 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
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Broad-based gait, Optic atrophy, Ptosis |
OMIM:609037 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Ataxia, Xanthelasma, Pseudobulbar paralysis, Abnormality of central somatosens... |
OMIM:213700 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Resting tremor, Ataxia, Optic atrophy, Depression, Head tremor |
ORPHA:314404 |
Chromosome Xp11.3 Deletion Syndrome |
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Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Choreoacanthocytosis |
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Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude ... |
ORPHA:2388 |
Wolfram Syndrome 2 |
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Optic atrophy, Optic neuropathy, Depression |
OMIM:604928 |
Fraser Syndrome 1 |
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Absent eyebrow, Anophthalmia, Absent eyelashes, Bilateral microphthalmos, Upper eyelid coloboma, ... |
OMIM:219000 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
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Tremor, Optic disc pallor, Ataxia, Dysmetria |
OMIM:618527 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Dystonia, Ataxia, Head titubation, Optic atrophy, Dysmetria, Dysphagia, Intention tremor |
OMIM:619708 |
Peroxisome Biogenesis Disorder 4B |
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Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ... |
OMIM:614863 |
Charge Syndrome |
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Anophthalmia, Facial palsy, Unilateral microphthalmos, Retinal coloboma, Dysphagia, Microphthalmi... |
OMIM:214800 |
Plaa-Associated Neurodevelopmental Disorder |
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Impaired oropharyngeal swallow response, Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
Sandhoff Disease, Infantile Form |
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Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Retinitis Pigmentosa 74 |
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Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Asparagine Synthetase Deficiency |
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Tremor, Irritability, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:615574 |
Sandhoff Disease |
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Cherry red spot of the macula, Orthostatic hypotension, Ataxia, Exaggerated startle response |
OMIM:268800 |
Friedreich Ataxia |
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Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conduction velocity, Dec... |
OMIM:229300 |
Acrofrontofacionasal Dysostosis 1 |
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Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Microphthalmia, Ptosis |
OMIM:201180 |
Phace Association |
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Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... |
OMIM:606519 |
De Sanctis-Cacchione Syndrome |
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Entropion, Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Choreoathetosis, Conjunctivi... |
OMIM:278800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Optic atrophy, Dysphagia |
OMIM:617527 |
Branchiooculofacial Syndrome |
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Telecanthus, Anophthalmia, Facial palsy, Nasolacrimal duct obstruction, Upslanted palpebral fissu... |
OMIM:113620 |
Glaucoma, Primary Closed-Angle |
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Increased cup-to-disc ratio |
OMIM:618880 |
7Q11.23 Microduplication Syndrome |
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Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... |
ORPHA:96121 |
Jacobsen Syndrome |
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Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal duct obstructio... |
OMIM:147791 |
Halperin-Birk Syndrome |
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Inability to walk, Pseudobulbar paralysis, Long eyelashes, Optic atrophy |
OMIM:618651 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
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Retinal dystrophy, Bilateral ptosis, Optic atrophy, Long eyelashes, Long palpebral fissure, Downs... |
ORPHA:324540 |
Microcephaly 29, Primary, Autosomal Recessive |
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Emotional lability, Hyperactivity, Ataxia, Thick eyebrow |
OMIM:620047 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2250 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Aganglionic megacolon, Aggressive behavior, Optic disc coloboma, Chorioretinal colo... |
OMIM:309800 |
Focal Dermal Hypoplasia |
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Anophthalmia, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia |
OMIM:305600 |
Papilloma Of Choroid Plexus |
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Papilledema |
OMIM:260500 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Optic atrophy, Gait ataxia, P... |
ORPHA:255210 |
Biotinidase Deficiency |
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Conjunctivitis, Ataxia, Optic atrophy, Lethargy |
OMIM:253260 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Ataxia |
OMIM:618598 |
Fuchs Heterochromic Iridocyclitis |
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Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal optic disc morphology, Optic atrophy, Abnormally large globe |
ORPHA:363417 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2538 |
Knobloch Syndrome 1 |
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Retinal detachment, Optic disc pallor, Epicanthus, Telecanthus, Ataxia, Chorioretinal atrophy, Vi... |
OMIM:267750 |
Microphthalmia, Syndromic 6 |
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Orbital cyst, Microphthalmia, Anophthalmia, Retinal dystrophy |
OMIM:607932 |
Dpagt1-Cdg |
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Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Optic atrophy, Head-banging, St... |
ORPHA:86309 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Unilateral ptosis, Optic nerve hypoplasia, Facial palsy, Almond-shaped palpebral fissure, Abnorma... |
ORPHA:508498 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Mot... |
OMIM:231550 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Epiblepharon, Irritability, Dysphagia, Thick eyebrow |
OMIM:618367 |
Peroxisome Biogenesis Disorder 1B |
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Epicanthus, Rod-cone dystrophy, Optic atrophy |
OMIM:601539 |
Fraser Syndrome |
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Anophthalmia, Lacrimal duct aplasia, Malformed lacrimal duct, Microphthalmia, Cryptophthalmos |
ORPHA:2052 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Congenital stationary night blindness, Abnormal optic disc morphology, Highly arched eyebrow |
ORPHA:293967 |
Mucopolysaccharidosis Type 2 |
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Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Impulsivity, Aggressive behavior... |
ORPHA:580 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Autosomal Dominant Hypocalcemia |
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Emotional lability, Optic atrophy, Writer's cramp, Depression |
ORPHA:428 |
Xq21 Microdeletion Syndrome |
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Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Arima Syndrome |
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Retinal dystrophy, Ataxia, Optic atrophy, Chorioretinal coloboma, Polydipsia, Ptosis |
OMIM:243910 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Gm1 Gangliosidosis Type 1 |
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Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Sympathetic Ophthalmia |
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Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Kenny-Caffey Syndrome, Type 2 |
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Retinal calcification, Papilledema, Microphthalmia |
OMIM:127000 |
Hyperoxaluria, Primary, Type I |
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Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy |
OMIM:259900 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Almond-shaped palpeb... |
ORPHA:438213 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Epicanthus, Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy |
ORPHA:397715 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Cancer-Associated Retinopathy |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Pineoblastoma |
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Papilledema, Retinoblastoma, Lethargy |
ORPHA:251909 |
Leptospirosis |
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Papilledema, Anorexia, Retinal hemorrhage, Chorioretinitis, Optic neuritis, Macular cotton wool s... |
ORPHA:509 |
Craniofacial Microsomia 1 |
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Anophthalmia, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Microphthalmia, Ptosis |
OMIM:164210 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Epicanthus, Telecanthus, Exaggerated startle response, Narrow palpebral fissure, Downslanted palp... |
OMIM:619522 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal fear-induced beh... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal fear-induced beh... |
ORPHA:353277 |