| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
| Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis |
OMIM:311050 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Ataxia, Pigmentary retinopathy, Generalized myoclonic seizure, Neurodegeneratio... |
OMIM:610951 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
| Cerebellar Ataxia, Cayman Type |
|
Abnormal retinal morphology, Nonprogressive cerebellar ataxia, Broad-based gait, Gait ataxia, Int... |
ORPHA:94122 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, Generalized myoclonic seizure, Seizure, Optic atrophy, Cerebellar atrophy, Retinal dystrophy |
OMIM:614706 |
| Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Limb ataxia, Ataxia, Bilateral tonic-clonic seizure, Retinal degeneration, Gait ataxia, Babinski ... |
OMIM:614322 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Cerebellar hypoplasia, Ataxia |
OMIM:213000 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Olivopontocerebellar atrophy, Ataxia, Seizure, Chorioretinal coloboma, Optic atrophy, Hypertonia,... |
ORPHA:2732 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Spinocerebellar Ataxia 43 |
|
Distal sensory impairment, Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Bilateral tonic-clonic seizure with focal onset, Cerebral atrophy, Myoclonic status epilepticus, ... |
OMIM:611726 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Increased neuronal autofluorescent lipopigment, Limb tremor, Loss of ambulati... |
OMIM:256731 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Cerebral atrophy, Ataxia, Loss of ambulation, Rigidity, Seizure, Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Unsteady gait, Ataxia, Tremor, Cerebellar atrophy |
OMIM:615945 |
| Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Tremor, Myoclonus, Cerebellar atrophy |
OMIM:616187 |
| Spinocerebellar Ataxia 40 |
|
Pontocerebellar atrophy, Ataxia, Unsteady gait, Ankle clonus, Dysdiadochokinesis, Tremor, Gait at... |
OMIM:616053 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 38 |
|
Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia, Cerebellar atrophy |
ORPHA:423296 |
| Camos Syndrome |
|
Spasticity, Ataxia, Progressive extrapyramidal movement disorder, Seizure, Aplasia/Hypoplasia of ... |
ORPHA:83472 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Inability to walk, Ataxia, Retinal pigment epithelial mottling, Optic disc pallor, Generalized dy... |
OMIM:619389 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Focal-onset seizure, Ataxia, Babinski sign, Diffuse cerebral atrophy, Bilateral tonic-clonic seiz... |
OMIM:615362 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Subcortical cerebral atrophy, Aplasia/Hypoplasia of the macula, Ataxia, Rigidity, Tre... |
ORPHA:33445 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Atrophy/Degeneration affecting the brainstem, Tremor, Gait ataxia, Cerebella... |
OMIM:615957 |
| Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Spasticity, Frequent falls, Ataxia, Impaired distal vibration sensation, Chiari type I malformati... |
OMIM:619742 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Difficulty walking, Lower limb spasticity, Ankle clonus, Atrophy/Degeneration affecting t... |
OMIM:612319 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Somatic sensory dysfunction, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... |
ORPHA:363710 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Cerebral atrophy, Ataxia, Retinal degeneration, Increased extraneuronal autofluorescent lipopigme... |
OMIM:204500 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Seizure, Intention tremor, Giant somatosensory evoked potentials, Myoclonus, Ce... |
OMIM:618876 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Loss of ambulation, Sei... |
OMIM:600143 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebellar atrophy, Corpus callosum atrophy, Cerebellar ataxia associated with... |
OMIM:615268 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Focal-onset seizure, Inability to walk, Difficulty walking, Focal impaired aw... |
ORPHA:330050 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrophy |
OMIM:616410 |
| Diaminopentanuria |
|
Spasticity, Seizure, Ataxia, Neurodegeneration |
OMIM:222350 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Inability to walk, Myoclonic seizure, Apraxia, Bilateral tonic-clonic seizure, Tremor... |
OMIM:617810 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Parkinsonism, Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Abnormality of extrapyra... |
OMIM:162350 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Hemiplegia, Tremor, Seizure, Cerebellar atrophy |
OMIM:141500 |
| Nescav Syndrome |
|
Spasticity, Inability to walk, Cerebral atrophy, Ataxia, Seizure, Cerebellar vermis atrophy, Appe... |
OMIM:614255 |
| Episodic Ataxia, Type 1 |
|
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia |
OMIM:160120 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia, Abnormality of extrapy... |
OMIM:614561 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Gait disturbance, Ataxia, Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum, Rod-cone ... |
ORPHA:1178 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Retinal dysplasia |
OMIM:615041 |
| Dystonia 23 |
|
Limb dystonia, Torticollis, Gait disturbance, Axial dystonia, Writer's cramp, Head tremor, Myoclo... |
OMIM:614860 |
| Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... |
ORPHA:98960 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia |
OMIM:613227 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Babinski sign, Impaired vibration sensation in the lower limbs, Tremor, Gait ataxia,... |
OMIM:610245 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Seizure, Gait a... |
OMIM:607317 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Olivopontocerebellar atrophy, Progressive cerebellar ataxia, Pigmentary retinopathy, ... |
OMIM:164500 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy |
OMIM:217800 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Seizure, Neurodegeneration |
OMIM:613068 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Cerebral atrophy, Ataxia, Unsteady gait,... |
ORPHA:98762 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Unsteady gait, Ankle clonus, Tremor, Cerebellar hypoplasia, Babinski sig... |
OMIM:615768 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait disturbance, Tonic seizure, Bilateral tonic-clonic seizure, Generalized m... |
OMIM:618090 |
| Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... |
OMIM:217700 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Loss of ambulation, Neurodegeneration, Fasciculations, Opto-chiasmatic atrophy, Dy... |
OMIM:615491 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Inability to walk, Cerebral atrophy, Ataxia, A... |
OMIM:617672 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... |
ORPHA:98964 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Parkinsonism, Gait disturbance, Cerebral atrophy, Falls, Impaired tandem gait, Apraxi... |
OMIM:300423 |
| Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Ataxia, Isometric tremor, Upper limb postural tremor, Ga... |
ORPHA:101110 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Cerebellar atrophy, Dysmetria |
OMIM:617917 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Progressive cerebellar ataxia, Difficulty walking, Clumsiness, Progressive gait ataxi... |
ORPHA:284332 |
| Ring Dermoid Of Cornea |
|
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... |
OMIM:610202 |
| Neurodegeneration With Brain Iron Accumulation |
|
Spasticity, Abnormality of extrapyramidal motor function, Rigidity, Chorea, Retinopathy, Optic at... |
ORPHA:385 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Difficulty walking, Pseudobulbar paralysis, Loss of ambulation, Impaired pro... |
OMIM:613908 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Spinocerebellar Ataxia 18 |
|
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Cerebellar atrophy, Dysmetria |
OMIM:607458 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Lichtenstein-Knorr Syndrome |
|
Limb ataxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar vermis atrophy, Action tremor, C... |
OMIM:616291 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Frequent falls, Torticollis, Cerebral atrophy, Ankle clonus, Head titubation, Spastic... |
OMIM:611302 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Rigidity, Tremor, Gait a... |
ORPHA:98763 |
| Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea |
OMIM:217300 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Cerebral atrophy, Abnormal autonomic nervous system physiology, Rigidity, Tremor, S... |
ORPHA:329284 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Frequent falls, Unsteady gait, Ataxia, Choreoathetosis, Bilateral tonic-clonic seizure, Generaliz... |
OMIM:301020 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Rod-cone dystrophy, Ataxia, Retinal pigment epithelial mottling, Seizure, Retinopathy, Corticospi... |
OMIM:551500 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Hand tremor, Ataxia, Apraxia, Neurodegeneration, Babinski sign, Cerebellar atrophy, D... |
OMIM:615889 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Frequent falls, Nonprogressive cerebellar ataxia, Unsteady gait, Clumsiness, Spastic dysarthria, ... |
ORPHA:314978 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Unsteady gait, Ataxia, Intention tremor, Cerebellar atrophy, Truncal ata... |
OMIM:616948 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... |
OMIM:136800 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
| Spinocerebellar Ataxia 12 |
|
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Act... |
OMIM:604326 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, Tremor, Seizure, Myo... |
OMIM:615924 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Difficulty walking, Progressive spastic paraplegia, Limb tremor, Aplasia/Hypoplasia of the cerebe... |
ORPHA:401820 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Abnormal pyramidal sign, Inferior cerebellar vermis hypoplasia, Inability to walk, Retrocerebella... |
OMIM:614831 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Seizure, Gait ataxia, Cerebellar atrophy |
OMIM:615705 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Aplasia of the inferior half of the cerebellar vermis, Global brain atrophy, Ataxia, Broad-based ... |
OMIM:610185 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... |
OMIM:617315 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Parkinsonism, Ataxia, Chorea, Seizure, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis... |
OMIM:125370 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Generalized myoclonic seizure, Tremor, Atonic seizure, Myoclonus, Babinski sign, Dysmetria |
OMIM:612437 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Gait disturbance, Falls, Atrophy/Degeneration affecting the brainstem, Bilateral ton... |
OMIM:616230 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Impaired tandem gait, Tremor, Myoc... |
OMIM:619028 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Unsteady gait, Ataxia, Abnormality of extrapyramidal motor function, Intention tremor, Action tre... |
OMIM:302500 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Cerebellar hypoplasia, Ataxia, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysmet... |
ORPHA:423275 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic spasms, Spasticity, Cerebral atrophy, Ataxia, Unsteady gait, Generalized-onset seizure,... |
ORPHA:79263 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy |
OMIM:608470 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Difficulty walking, Clumsiness, P... |
ORPHA:284324 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Unsteady gait, Chorea, Tremor, Brain atrophy, Hemiballismus |
ORPHA:494526 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Status epilepticus, Focal-onset seizure, Hemiparesis, Ataxia, Pigmentary retinopathy,... |
OMIM:614307 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Parkinsonism, Cerebral atrophy, Ankle clonus, Loss of ambulation, Scissor gait, Tremo... |
ORPHA:521406 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor |
OMIM:608687 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spasticity, Spastic tetraplegia, Ataxia, Seizure, Optic atrophy, Cerebellar atrophy |
OMIM:617207 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Cerebral atrophy, Ataxia, Loss of ambulation, Seizure, Positive Romberg sign, Corpus ... |
OMIM:618088 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Oculomotor apraxia, Ataxia, Optic disc pallor, Dysdiadochokinesis, Gait ataxia, Cerebellar vermis... |
OMIM:616204 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... |
OMIM:269400 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Hyperkinetic movements, Unsteady gait, Chorea, Tremor, Seizure, Hemiballismus |
OMIM:616921 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Gene... |
OMIM:617831 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Cerebellar vermis atrophy, C... |
OMIM:213200 |
| Behr Syndrome |
|
Frequent falls, Progressive spasticity, Gait disturbance, Unsteady gait, Ataxia, Tremor, Cerebell... |
OMIM:210000 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Cerebral atrophy, Abnormal autonomic nervous system physiology, Rigidity, Tremor, S... |
OMIM:300894 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Limb ataxia, Progressive cerebellar ataxia, Difficulty walking, Pseudobulbar paralys... |
ORPHA:276193 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Dysdiadochokinesis, Neurodegeneration, Olivopontocerebellar atrophy, Dystonia, Dysme... |
OMIM:615157 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Granular corneal dystrophy, Recurrent corneal erosions, Corneal ... |
ORPHA:98963 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Chorea, Tremor, Dyst... |
OMIM:618425 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Oculomotor apraxia, Ataxia, Rigidity, Tremor, Seizure, Optic atrophy, Cerebellar atro... |
OMIM:612438 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Status epilepticus, Oculomotor apraxia, Difficulty walking, Bilateral tonic-clonic se... |
ORPHA:529665 |
| Spinocerebellar Ataxia 29 |
|
Limb ataxia, Nonprogressive cerebellar ataxia, Impaired tandem gait, Focal impaired awareness sei... |
OMIM:117360 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Retinal telangiectasia, Gait ataxia, Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Gait disturbanc... |
ORPHA:216873 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Spasticity, Ataxia, Clumsiness, Gait ataxia, Intention tremor, Cerebellar atrophy, Dysmetria |
OMIM:608029 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Difficulty walking, Bilateral tonic-clonic seizure, Tremor, Giant somatosens... |
OMIM:613608 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Frequent falls, Difficulty walking, Febrile seizure (within the age range of 3 months to 6 years)... |
ORPHA:512260 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Frequent falls, Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Eyelid myo... |
ORPHA:2590 |
| Spinocerebellar Ataxia 50 |
|
Froment sign, Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Cerebellar vermis atrophy, M... |
OMIM:620158 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Spasticity, Inability to walk, Ataxia, Atrophy/Degeneration affecting the brainstem, Seizure, Opt... |
OMIM:617954 |
| Spinocerebellar Ataxia 48 |
|
Parkinsonism, Ataxia, Bilateral tonic-clonic seizure, Chorea, Tremor, Gait ataxia, Babinski sign,... |
OMIM:618093 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive cerebellar ataxia, Loss of ambulation, Abnormal cerebellum morphology, Slurred speech... |
ORPHA:137898 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor, Giant somatosensory evoked... |
OMIM:601068 |
| Boucher-Neuhauser Syndrome |
|
Chorioretinal dystrophy, Spasticity, Ataxia, Abnormal upper motor neuron morphology, Spinocerebel... |
OMIM:215470 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure,... |
OMIM:617836 |
| Peroxisome Biogenesis Disorder 8B |
|
Loss of ambulation, Rigidity, Dysmetria, Spasticity, Retinal dystrophy, Ataxia, Dysesthesia, Hype... |
OMIM:614877 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Parkinsonism, Torticollis, Seizure, Gait ataxia, Bradykinesia, Resting tremor, Cer... |
ORPHA:71517 |
| Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fascicul... |
ORPHA:65684 |
| Dravet Syndrome |
|
Generalized clonic seizure, Status epilepticus, Abnormal pyramidal sign, Cerebral atrophy, Ataxia... |
OMIM:607208 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Dense calcifications in the cerebellar dentate nucleus, Ga... |
OMIM:213600 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Ataxia, Tremor, Seizure, Optic atrophy, Cerebral cortical atrophy |
OMIM:300983 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Inferior cerebellar vermis hypoplasia, Broad-based gait, Dysdiadochokinesis, Seizure, Intention t... |
OMIM:224050 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Frequent falls, Limb ataxia, Oculomotor apraxia, Unsteady gait, Ataxia, Broad-based gait, Clumsin... |
OMIM:616127 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Clonus, Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospina... |
OMIM:600363 |
| Cln5 Disease |
|
Spasticity, Focal-onset seizure, Inability to walk, Ataxia, Poor gross motor coordination, Genera... |
ORPHA:228360 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Chorea, Tremor, Atonic seizure,... |
OMIM:618587 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Limb myoclonus, Cerebral atrophy, Progressive cerebellar ataxia, Febr... |
ORPHA:263516 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Focal-onset seizure, Ataxia, Generalized-onset seizure, Focal impaired awaren... |
ORPHA:36387 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Gait disturbance, Ataxia, Dysdiadochoki... |
OMIM:617145 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Distal sensory impairment, Ataxia, Steppage gait, Tremor, Gait ataxia, Cerebellar atrophy, Dysmetria |
OMIM:618387 |
| Spinocerebellar Ataxia Type 17 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Torticollis, Gait disturbance, Ataxia, Blephar... |
ORPHA:98759 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Ataxia, Tremor, Seizure, Epilepsia partialis continua, Myoclonus, Genera... |
OMIM:612016 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebral atrophy, Ataxia, Lower limb spasticity, Loss of ambulation, Tremor, Cerebellar atrophy, ... |
OMIM:617916 |
| Segawa Syndrome, Autosomal Recessive |
|
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... |
OMIM:605407 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Babinski sign, Ataxia, Tremor |
OMIM:611105 |
| Spinocerebellar Ataxia Type 26 |
|
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Progressive gait ataxia,... |
ORPHA:101112 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Limb ataxia, Difficulty walking, Lower limb spasticity, Spastic dysarthria, Impaired propriocepti... |
ORPHA:251282 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... |
ORPHA:293603 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Limb ataxia, Progressive cerebellar ataxia, Generalized-onset seizure, Ankle clonus, Macular dege... |
ORPHA:284289 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Seizure, Myoclonus, Cerebellar at... |
ORPHA:139485 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Abnormal pyramidal sign, Spastic tetraplegia, Parkinsonism, Distal sensory impairment, Ataxia, Fa... |
OMIM:617225 |
| Peters Anomaly |
|
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Limb myoclonus, Torticollis, Limb ataxia, Somatic sensory dysfunction, Atrophy/Degeneration affec... |
OMIM:619862 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Cerebral atrophy, Unsteady gait... |
ORPHA:397946 |
| Spinocerebellar Ataxia 17 |
|
Parkinsonism, Limb ataxia, Ataxia, Broad-based gait, Apraxia, Diffuse cerebral atrophy, Rigidity,... |
OMIM:607136 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Abnormal pyramidal sign, Dystonia, Cerebral atrophy, Unsteady gait, Ankle clonus, Foc... |
OMIM:617435 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dysmetria, Spasticity, Ataxia, Postural tremor, Loss of ambulation, Tremor, Seizure, Babinski sig... |
OMIM:607694 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonic status epilepticus, Ataxia, Difficulty walking, Loss of ambulation, Bilateral tonic-clo... |
OMIM:614018 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Spasticity, Abnormal pyramidal sign, Abnormal pons morphology, Progressive cerebellar ataxia, Ata... |
ORPHA:98 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Spasticity, Cerebral atrophy, Dysdiadochokinesis, Chorea, Seizure, Bradykinesia, Intention tremor... |
OMIM:610217 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Focal motor seizure, Bilateral tonic-clonic seizure, Focal hemifacial clonic seizure... |
OMIM:608105 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormal pyramidal sign, Spastic tetraplegia, Cerebral atrophy, Ataxia, Unsteady gait, Decreased ... |
OMIM:256600 |
| Peroxisome Biogenesis Disorder 5B |
|
Retinal dystrophy, Oculomotor apraxia, Unsteady gait, Ataxia, Tremor, Cerebellar atrophy, Rod-con... |
OMIM:614867 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Spasticity, Status epilepticus, Cerebral atrophy, Ataxia, Myoclonic seizure, Retinal atrophy, Rig... |
OMIM:610127 |
| Spinocerebellar Ataxia 19 |
|
Limb ataxia, Progressive cerebellar ataxia, Cogwheel rigidity, Postural tremor, Gait ataxia, Myoc... |
OMIM:607346 |
| Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... |
OMIM:309300 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus |
OMIM:614937 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Spasticity, Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Cerebellar atrophy,... |
OMIM:615386 |
| Primary Dystonia, Dyt27 Type |
|
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... |
ORPHA:464440 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Ataxia, Abnormal lower motor... |
OMIM:614298 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Difficulty walking, Generalized-onset seizure, Generalized myoclonic seizure, Tre... |
OMIM:159950 |
| Spinocerebellar Ataxia 2 |
|
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Dysdiadochokinesis, Fasciculations, Olivopo... |
OMIM:183090 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Gait disturbance, Cerebral atrophy, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
| Dystonia 27 |
|
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Macular Corneal Dystrophy |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... |
ORPHA:98969 |
| Atypical Juvenile Parkinsonism |
|
Abnormal pyramidal sign, Inability to walk, Short stepped shuffling gait, Slowed slurred speech, ... |
ORPHA:391411 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... |
OMIM:615400 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Hsd10 Disease |
|
Gait disturbance, Ataxia, Rigidity, Tremor, Seizure, Myoclonus, Optic atrophy, Frontotemporal cer... |
ORPHA:391417 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal guttata, Corneal dystrophy |
OMIM:615523 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Paresthesia, Dystonia, Ataxia, Chorea, Seizure, Generalized non-motor (absence) seizure, Torsion ... |
ORPHA:98811 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... |
OMIM:314250 |
| Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog... |
ORPHA:98962 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Myoclonic spasms, Global brain atrophy, Poor coordination, Optic neuropathy, Abnormal autonomic n... |
ORPHA:478029 |
| Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Abnormal pyramidal sign, Cerebellar dyspla... |
ORPHA:101070 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Postural tremo... |
ORPHA:314632 |
| Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Loss of Purkinje cells in the cerebellar vermis, Impaired vibration sens... |
OMIM:616795 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Subcortical cerebral atrophy, Falls, Short stepped shuffling gait, Rigidity, Bradyk... |
ORPHA:306692 |
| 4H Leukodystrophy |
|
Ataxia, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Dysdiadochokinesis... |
ORPHA:289494 |
| Glutathione Synthetase Deficiency |
|
Ataxia, Pigmentary retinopathy, Seizure, Intention tremor, Spastic tetraparesis |
OMIM:266130 |
| Anterior Segment Dysgenesis 1 |
|
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Ataxia, Myoclonic seizure, Tremor, Atonic seizure, Generalized non-motor (absen... |
OMIM:616421 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Seizure, Epileptic spasm, Inability to walk |
OMIM:619561 |
| Developmental And Epileptic Encephalopathy 47 |
|
Status epilepticus, Limb ataxia, Focal-onset seizure, Inability to walk, Ataxia, Gait disturbance... |
OMIM:617166 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Distal sensory impairment, Cerebral atrophy, Ataxia, Steppage gait, Decreased motor nerve conduct... |
OMIM:607250 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Spastic tetraplegia, Gait disturbance, Tip-toe gait, Rigidity, Bradykinesia, Oromandibular dyston... |
OMIM:615643 |
| X-Linked Intellectual Disability, Hedera Type |
|
Frequent falls, Inability to walk, Gait disturbance, Unsteady gait, Apraxia, Bilateral tonic-clon... |
ORPHA:93952 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Oculomotor apraxia, Ataxia, Retinal atrophy, Cerebellar dy... |
ORPHA:370022 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Impaired distal vibration sensation, Cogwheel rigidity, Parkinsonism wit... |
OMIM:128230 |
| Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Pigmentary retinopathy, Rigidity, Laryngeal dystonia, Fasciculatio... |
ORPHA:99 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Spasticity, Oculomotor apraxia, Ataxia, Diffuse cerebral atrophy, Dilated fourth ventricle, Tremo... |
ORPHA:1170 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Frequent falls, Distal sensory impairment, Gait disturbance, Hand tremor, Difficulty walking, Par... |
OMIM:302800 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Cere... |
ORPHA:542310 |
| Primary Dystonia, Dyt13 Type |
|
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... |
ORPHA:98807 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Focal dystonia, Tremor, Gait ataxia, Fasciculations, Dystonia |
ORPHA:309169 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Ataxia, Tremor, Myoclonus, Cerebellar atrophy |
OMIM:616494 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Frequent falls, Impaired pain sensation, Limb ataxia, Distal sensory impairment, Pare... |
OMIM:616719 |
| Spinocerebellar Ataxia 13 |
|
Spasticity, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Impaired distal ... |
OMIM:605259 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... |
OMIM:613270 |
| Myoclonic Epilepsy, Familial Infantile |
|
Limb ataxia, Focal-onset seizure, Ataxia, Impaired tandem gait, Febrile seizure (within the age r... |
OMIM:605021 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Cerebral atrophy, Ataxia, Tremor, Seizure, Cerebellar hypoplasia, Retinopathy, Optic atrophy, Cho... |
OMIM:619422 |
| Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Gait disturbance, Hand tremor, Difficulty walking, Tremor, Gait ataxia, Akinesia, Ce... |
ORPHA:98764 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Spinocerebellar Ataxia 15 |
|
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Truncal ataxia |
OMIM:606658 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-cloni... |
OMIM:617106 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... |
OMIM:610256 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Seizure, Spastic tetraparesis, Optic atrophy, Broad-based gait |
OMIM:619470 |
| Poretti-Boltshauser Syndrome |
|
Oculomotor apraxia, Cerebellar dysplasia, Retinal atrophy, Cerebellar cyst, Retinal thinning, Dil... |
OMIM:615960 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Limbal Stem Cell Deficiency |
|
Corneal perforation, Opacification of the corneal epithelium, Corneal scarring, Cornea verticilla... |
ORPHA:171673 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ... |
ORPHA:98974 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal pyramidal sign, Cerebral atrophy, Chorea, Cherry red spot of the macula, Seizure, Exagge... |
ORPHA:309246 |
| Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Tremor,... |
OMIM:616366 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Writer's cramp, Bradykinesia, ... |
OMIM:606159 |
| Spinocerebellar Ataxia Type 10 |
|
Status epilepticus, Kinetic tremor, Progressive cerebellar ataxia, Unsteady gait, Generalized-ons... |
ORPHA:98761 |
| Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Gait disturbance, Progressive cerebellar ataxia,... |
ORPHA:98755 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Status epilepticus, Cerebral atrophy, Ataxia, Limb hypertonia, Unsteady gait, Difficu... |
ORPHA:442835 |
| Dentatorubral Pallidoluysian Atrophy |
|
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Optic neuropathy, Impaired pro... |
ORPHA:101 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Spastic tetraplegia, Cerebral atrophy, Ataxia, Limb hypertonia, Multifocal seizures, Diffuse cere... |
OMIM:617710 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased sensory nerve conduction velocity, Spasticity, Distal sensory impairment, Steppage gait... |
OMIM:609260 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebral atrophy, Ataxia, Unsteady gait, Titubation, Tremor, Cerebellar atrophy, Dysmetria |
OMIM:619405 |
| Spinocerebellar Ataxia 27B, Late-Onset |
|
Gait ataxia, Postural tremor, Limb ataxia, Cerebellar atrophy |
OMIM:620174 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Distal sensory impairment, Ataxia, Steppage gait, Tremor, Gait ataxia, Intention tremor, Myoclonu... |
OMIM:616505 |
| Dravet Syndrome |
|
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaire... |
ORPHA:33069 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Spasticity, Focal-onset seizure, Ataxia, Clumsiness, Spastic dysarthria, Postural tremor, Autonom... |
ORPHA:447896 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Distal sensory impairment, Abnormal retinal morphology, Optic neuritis, Cerebral atrophy, Ataxia,... |
ORPHA:254886 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Distal sensory impairment, Limb ataxia, Oculomotor apraxia, Ataxia, Impaired distal vibration sen... |
OMIM:208920 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Spasticity, Distal sensory impairment, Ataxia, Decreased nerve conduction velocity, Intention tre... |
OMIM:612674 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Oculomotor apraxia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic sei... |
OMIM:614487 |
| Developmental And Epileptic Encephalopathy 56 |
|
Status epilepticus, Poor coordination, Ataxia, Myoclonic seizure, Focal motor seizure, Seizure, G... |
OMIM:617665 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Spasticity, Progressive cerebellar ataxia, Progressive gait ataxia, Dysdiadochokinesis, Intention... |
ORPHA:352403 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Paraparesis, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
OMIM:612736 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hyperkinetic movements, Parkinsonism, Global brain atrophy, Ataxia, Chorea, Tremor, Action tremor... |
OMIM:619738 |
| Spinocerebellar Ataxia 5 |
|
Limb ataxia, Ataxia, Ankle clonus, Dysdiadochokinesis, Gait ataxia, Intention tremor, Impaired vi... |
OMIM:600224 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Gait disturbance, Ataxia, Paraparesis, Abnormal nerve conduction velocit... |
ORPHA:99014 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Sclerocornea, Developmental c... |
OMIM:604229 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia Type 29 |
|
Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Intention tremor, Cerebellar vermis ... |
ORPHA:208513 |
| Hsd10 Disease, Infantile Type |
|
Hyperkinetic movements, Cerebral atrophy, Poor coordination, Choreoathetosis, Diffuse cerebral at... |
ORPHA:391428 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... |
OMIM:260300 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Parkinsonism, Abnormal cranial nerve morphology, Abnormal vestibulo-ocular reflex, At... |
ORPHA:247234 |
| Leukoencephalopathy With Ataxia |
|
Limb ataxia, Optic neuropathy, Retinoschisis, Gait ataxia, Action tremor, Chorioretinal atrophy, ... |
OMIM:615651 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Torticollis, Gait disturbance, Retrocollis, Tip-toe gait, Tremor, Oromandibular dysto... |
OMIM:617284 |
| L-2-Hydroxyglutaric Aciduria |
|
Abnormal pyramidal sign, Global brain atrophy, Ataxia, Abnormality of extrapyramidal motor functi... |
OMIM:236792 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Recurrent corneal erosions, Corneal scarring, Keratoconjunctivit... |
ORPHA:293381 |
| Null Syndrome |
|
Inability to walk, Ataxia, Difficulty walking, Progressive spastic paraplegia, Decreased nerve co... |
ORPHA:280234 |
| Neurotrophic Keratopathy |
|
Corneal perforation, Corneal ulceration, Recurrent corneal erosions, Astigmatism, Corneal scarrin... |
ORPHA:137596 |
| Corticobasal Syndrome |
|
Limb dystonia, Limb myoclonus, Parkinsonism, Gait disturbance, Oromotor apraxia, Somatic sensory ... |
ORPHA:454887 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired distal ... |
ORPHA:276435 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
| Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Ga... |
ORPHA:98773 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Limb ataxia, Oculomotor apraxia, Unsteady gait, Ataxia, Clumsiness, Postural tremor, Truncal titu... |
OMIM:609270 |
| Krabbe Disease |
|
Progressive spasticity, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Seizure, N... |
OMIM:245200 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
| Glut1 Deficiency Syndrome 2 |
|
Cerebral atrophy, Ataxia, Tremor, Seizure, Choreoathetosis, Dystonia |
OMIM:612126 |
| Spinocerebellar Ataxia Type 13 |
|
Limb ataxia, Torticollis, Difficulty walking, Impaired distal vibration sensation, Clumsiness, Op... |
ORPHA:98768 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Inability to walk, Global brain atrophy, Ataxia, Broad-based gait, Gener... |
OMIM:312080 |
| Urocanase Deficiency |
|
Ataxia, Broad-based gait, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria |
OMIM:276880 |
| Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal guttata, Corneal dystrophy |
OMIM:613268 |
| Spinocerebellar Ataxia 44 |
|
Spasticity, Frequent falls, Ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria |
OMIM:617691 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Ab... |
ORPHA:96 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Seizure, Myoclonus, Hypertonia, Choreoathetosis, Dystonia |
OMIM:261630 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Difficulty walking, Tremor, Bradykinesia, Cerebral cortical hemiatroph... |
ORPHA:306669 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Parkinsonism, Clumsiness, Focal motor seizure, Postural tremor, Bilateral tonic-clonic seizure, R... |
OMIM:619911 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention t... |
OMIM:614381 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Unsteady gait, Difficulty walking, Axial dystonia, Limb tremor, Focal dystonia, Writ... |
ORPHA:420492 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Diffuse cerebral atrophy, Decrea... |
OMIM:619279 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Gait disturbance, Ataxia, Abnormal nerve conduction velocity, Tremor |
ORPHA:101075 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal pyramidal sign, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia, Clu... |
ORPHA:282166 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Pontocerebellar atrophy, Ataxia, T... |
OMIM:618060 |
| Spinocerebellar Ataxia 34 |
|
Spasticity, Abnormal pyramidal sign, Limb ataxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Intent... |
OMIM:133190 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Cogwheel rigidity, Diffuse cerebral atrophy, Scissor gait, Seizure, Bra... |
ORPHA:363654 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Gait disturbance, Difficulty walking, Broad-based gait, Speech apraxia, Retinal degeneration, Arm... |
ORPHA:79244 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract |
OMIM:116200 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Seizure, Ataxia |
OMIM:618951 |
| Riboflavin Transporter Deficiency |
|
Abnormal cranial nerve morphology, Ataxia, Optic disc pallor, Abnormal autonomic nervous system p... |
ORPHA:97229 |
| Autosomal Dominant Keratitis |
|
Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... |
ORPHA:2334 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Ataxia, Myoclonic sei... |
OMIM:619092 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Parkinsonism, Inability to walk, Cerebral atrophy, Head titubation, Rigidity, Tremor,... |
OMIM:618877 |
| Migraine, Familial Hemiplegic, 2 |
|
Hemiparesis, Focal motor seizure, Hemiplegia, Bilateral tonic-clonic seizure, Apraxia, Tremor, Ga... |
OMIM:602481 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Spasticity, Gait disturbance, Ataxia, Blepharospasm, Clumsiness, Pigmentary retinopathy, Loss of ... |
OMIM:617282 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Parkinsonism, Inability to walk, Cerebral atrophy, Gait disturbance, C... |
OMIM:617013 |
| Gm2-Gangliosidosis, Ab Variant |
|
Abnormal pyramidal sign, Cerebral atrophy, Myoclonic seizure, Chorea, Seizure, Exaggerated startl... |
OMIM:272750 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Spasticity, Global brain atrophy, Optic neuropathy, Seizure, Axonal degeneration, Retinopathy, Op... |
OMIM:616811 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus, Writer's cramp |
OMIM:159900 |
| Brittle Cornea Syndrome 2 |
|
Corneal perforation, Megalocornea, Keratoglobus, Decreased corneal thickness, Keratoconus, Sclero... |
OMIM:614170 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Tremor, Seizure, Optic atrophy, Cerebellar atrophy, Choreoathetosi... |
OMIM:617664 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Somatic sensory dysfunction, Parkinsonis... |
ORPHA:240103 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Limb ataxia, Gait disturbance, Ataxia, Cerebellar vermis atrophy, Cerebellar atrophy, Truncal ataxia |
OMIM:614229 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, I... |
OMIM:608768 |
| Posterior Polymorphous Corneal Dystrophy |
|
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... |
ORPHA:98973 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased sensory nerve conduction velocity, Gait disturbance, Somatic sensory dysfunction, Ataxi... |
OMIM:603472 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Spasticity, Tetraparesis, Status epilepticus, Limb dystonia, Abnormal pyramidal sign, Cerebral at... |
ORPHA:363400 |
| Spinocerebellar Ataxia 6 |
|
Frequent falls, Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Ataxia, Loss of ... |
OMIM:183086 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Infantile spasms, Ataxia, Tremor |
OMIM:278780 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Parkinsonism, Ataxia, Oculogyric crisis, Abnormal autonomic nervous system physiology, Shuffling ... |
OMIM:618049 |
| Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Focal-onset seizure, Gait ... |
ORPHA:352582 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Impaired pain sensation, Gait disturbance, Ataxia, Decreased nerve conduction velocity, Tremor |
ORPHA:101078 |
| Developmental And Epileptic Encephalopathy 4 |
|
Status epilepticus, Spastic tetraplegia, Cerebral atrophy, Epileptic spasm, Bilateral tonic-cloni... |
OMIM:612164 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Ataxia, Progressive spastic paraplegia, Atrophy of the spinal cord, Babinski si... |
OMIM:612020 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Status epilepticus, Seizure, Neurodegeneration, Neuronal loss in central nervous syst... |
OMIM:616239 |
| Spinocerebellar Ataxia Type 36 |
|
Limb myoclonus, Limb ataxia, Loss of Purkinje cells in the cerebellar vermis, Hand tremor, Ataxia... |
ORPHA:276198 |
| Myopathy With Extrapyramidal Signs |
|
Frequent falls, Status epilepticus, Ataxia, Clonus, Clumsiness, Cerebellar dysplasia, Difficulty ... |
OMIM:615673 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait disturbance, Abnormal sensory nerve conduction velocity, Ataxia, Pigmentary retinopathy, Tru... |
ORPHA:88628 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Progressive cerebellar ataxia, Vestibular areflexia, Dysdiadochokinesis, Gait ataxia, Intention t... |
ORPHA:504476 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Cerebral atrophy, Ataxia |
OMIM:618637 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Inability to walk, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Faci... |
OMIM:128100 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Seizure, Choreoathetosis, Dystonia |
OMIM:612716 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Frequent falls, Gait disturbance, Ataxia, Difficulty walking, Clumsiness, Febrile seizure (within... |
ORPHA:206443 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Atypical Rett Syndrome |
|
Spasticity, Infantile spasms, Limb myoclonus, Impaired pain sensation, Inability to walk, Gait di... |
ORPHA:3095 |
| Spinocerebellar Ataxia Type 18 |
|
Somatic sensory dysfunction, Titubation, Head tremor, Gait ataxia, Cerebellar atrophy, Dysmetria |
ORPHA:98771 |
| Fragile X Tremor/Ataxia Syndrome |
|
Parkinsonism, Impaired tandem gait, Impaired distal vibration sensation, Postural tremor, Diffuse... |
OMIM:300623 |
| Cerebral Visual Impairment |
|
Oculomotor apraxia, Clumsiness, Optic disc pallor, Retinopathy of prematurity, Optic nerve hypopl... |
ORPHA:447788 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal pyramidal sign, Dystonia, Inability to walk, Global brain atrophy, Absent brainstem audi... |
ORPHA:52368 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Decreased nerve conduction velocity, Ataxia |
ORPHA:1368 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Difficulty walking, Progressive extrapyramidal movement disorder, Chorea, Resting tremor,... |
ORPHA:401768 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Spasticity, Spastic tetraplegia, Focal-onset seizure, Ataxia, Difficulty walking, Rigidity, Chiar... |
OMIM:618476 |
| Gerstmann-Straussler Disease |
|
Spasticity, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoc... |
OMIM:137440 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spastic gait, Atrophy of the spinal cord, Upper limb postural tremor, Dysdiadochokinesis, Abnorma... |
ORPHA:99027 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Pigmentary retinopathy, Rigidity, Neurodegeneration, Dystonia, Spasticity, Gait disturbance, Atax... |
OMIM:234200 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Difficulty walking, Clonus, Atrophy of the spinal cord, Abnormal lower motor neuron morphology, A... |
OMIM:602433 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Difficulty walking, Febrile seizure (within the age range of 3 months to 6 years), Tremor, Seizur... |
ORPHA:477673 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Torticollis, Gait disturbance, Distal sensory impairment, Ataxia, Parki... |
OMIM:606693 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Limb hypertonia, Focal impaired awareness seizure, Truncal titubation, Tremor, Seizure, Exaggerat... |
OMIM:618056 |
| Developmental And Epileptic Encephalopathy 46 |
|
Cerebral atrophy, Limb hypertonia, Generalized-onset seizure, Tremor, Seizure |
OMIM:617162 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Gait disturbance, Tremor, Aplasia/Hypoplasia of the cerebellum, Photosensitive myoclonic seizure,... |
ORPHA:1192 |
| Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Descemet Membrane Folds, Herpetiform corneal ulceration, Corneal stromal ede... |
ORPHA:137599 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Distal sensory impairment, Inability to walk, Somatic s... |
ORPHA:90117 |
| Aceruloplasminemia |
|
Parkinsonism, Limb ataxia, Torticollis, Ataxia, Blepharospasm, Macular degeneration, Rigidity, Ab... |
ORPHA:48818 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Spinocerebellar Ataxia Type 42 |
|
Impaired vibration sensation at ankles, Unsteady gait, Atrophy/Degeneration affecting the brainst... |
ORPHA:458803 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Oculomotor apraxia, Progressive cerebellar ataxia, Difficulty walking, Spastic dysarthria, Impair... |
ORPHA:95433 |
| Tay-Sachs Disease |
|
Inability to walk, Focal impaired awareness seizure, Typical absence seizure, Cherry red spot of ... |
ORPHA:845 |
| Primary Dystonia, Dyt2 Type |
|
Limb dystonia, Torticollis, Difficulty walking, Blepharospasm, Generalized dystonia, Tremor, Tors... |
ORPHA:99657 |
| Atopic Keratoconjunctivitis |
|
Chemosis, Keratoconjunctivitis sicca, Corneal opacity, Keratitis, Corneal neovascularization |
ORPHA:163934 |
| Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Limb ataxia, Paraparesis, Seizure, Spastic paraplegia, Sl... |
OMIM:300100 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Unsteady gait, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Inability to walk, Ataxia, Tremor, Seizure, Cerebellar hypoplasia, Hypertonia |
OMIM:619556 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased sensory nerve conduction velocity, Frequent falls, Distal sensory impairment, Gait dist... |
ORPHA:206594 |
| Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Ataxia, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesi... |
OMIM:146500 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Ataxia, Limb hypertonia, Rigidity, Tremor, Seizure, Bradykinesia, Hypertonia, Chore... |
OMIM:261640 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... |
OMIM:613135 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Parkinsonism, Eyelid myoclonus, Global brain atrophy, Hemiparesis, Hand tremor, Clums... |
OMIM:612953 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Pontocerebellar atrophy, Impaired dista... |
OMIM:606002 |
| Dopa-Responsive Dystonia |
|
Parkinsonism, Inability to walk, Leg dystonia, Poor coordination, Gait disturbance, Difficulty wa... |
ORPHA:255 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Abnormal macular morphology, Pontocerebellar atrophy, Ataxia, Tremor, Seizure, Retinopathy, Optic... |
OMIM:608799 |
| Jaberi-Elahi Syndrome |
|
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Gait ataxia, Cerebel... |
OMIM:617988 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Limb dystonia, Hand tremor, Difficulty walking, Blepharospasm, Parkinsonism with ... |
ORPHA:53351 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Status epilepticus, Right hemiplegia, Ataxia, Diffuse cerebral atrophy, Loss of ambulation, Tremo... |
OMIM:607426 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hemiparesis, Hypoesthesia, Generalized-onset seizure, Optic disc pallor, Retrobulbar optic neurit... |
OMIM:619737 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy |
OMIM:609141 |
| Multiple System Atrophy |
|
Autonomic erectile dysfunction, Frequent falls, Abnormal pyramidal sign, Parkinsonism, Progressiv... |
ORPHA:102 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Blepharospasm, Bilateral tonic-clonic seizure, Tremor, Giant somatosensory evoked potenti... |
OMIM:607876 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Developmental cataract, Corneal opacity |
OMIM:618815 |
| Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy, Ataxia |
OMIM:619473 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Inability to walk, Cogwheel rigidity, Para... |
OMIM:607483 |
| Neuroferritinopathy |
|
Parkinsonism, Leg dystonia, Difficulty walking, Blepharospasm, Focal dystonia, Palatal tremor, Ch... |
ORPHA:157846 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Gait disturbance, Cerebral atrophy, Babinski sign, Tip-toe gait, Tremor, Spastic paraplegia, Abno... |
ORPHA:83629 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Spasticity, Cerebral atrophy, Ataxia, Babinski sign, Atrophy/Degeneration affecting the brainstem... |
ORPHA:314404 |
| Sialidosis Type 2 |
|
Tremor, Seizure, Abnormal macular morphology, Ataxia |
ORPHA:87876 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Spastic tetraplegia, Gait disturbance, Cerebral atrophy, Ataxia, Poor coordination, Clonus, Spast... |
OMIM:616878 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Abnormal pyramidal sign, Oculomotor apraxia, Somatic sensory dysfunction, Ataxia, Postural tremor... |
ORPHA:64753 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Spasticity, Inability to walk, Tremor, Seizure, Brain atrophy |
OMIM:618718 |
| Ataxia With Vitamin E Deficiency |
|
Gait disturbance, Progressive cerebellar ataxia, Ataxia, Clumsiness, Abnormality of central somat... |
OMIM:277460 |
| Leber Optic Atrophy |
|
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Postural tremor, Leber opti... |
OMIM:535000 |
| Norrie Disease |
|
Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... |
OMIM:310600 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Spastic tetraplegia, Limb dystonia, Cerebral atrophy, Ataxia, Limb hypertonia, Difficulty walking... |
ORPHA:572798 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Seizure, Bradykinesia, Cerebral palsy, Dyst... |
ORPHA:70594 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Limb hypertonia, Rigidity, Tremor, Seizure, Choreoathetosis, Dystonia |
OMIM:233910 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Parkinsonism, Ataxia, Apraxia, Shuffling gait, Tremor, Seizure, Bradykinesia... |
OMIM:300055 |
| Parkinson Disease 17 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor, Akinesia |
OMIM:614203 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, S... |
ORPHA:99750 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait disturbance, Hoffmann sign, Abnormal upper motor neuron morphology, Gait ataxia, Impaired vi... |
OMIM:601162 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormal pyramidal sign, Abnormality of pain sensation, Falls, Spastic dysarthria, Impaired vibra... |
ORPHA:447753 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Tremor, Seizure, Myoclonus, Episodic ataxia, Choreoathetosis, Dystonia |
OMIM:312170 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Parkinsonism, Ataxia, Cogwheel rigidity, Bilateral tonic-clonic seizure, Nocturnal seizures, Chor... |
OMIM:619725 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, Short stepped shuffling gait, Spastic dy... |
ORPHA:240094 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of pain sensation, Myoclonic absence seizure, Gait disturbance, Poor coordination, At... |
ORPHA:544254 |
| Wolfram Syndrome 1 |
|
Cerebral atrophy, Ataxia, Pigmentary retinopathy, Tremor, Seizure, Optic atrophy |
OMIM:222300 |
| Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:137902 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Parkinsonism, Gait disturbance, Ataxia, Oculogyric crisis, Shuffling gait, Dysdiad... |
ORPHA:352649 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Gait disturbance, Impaired distal vibration sensation, Pseudobulbar paralysis, Tremor... |
OMIM:616586 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Tetraparesis, Torticollis, Global brain atrophy, Ataxia, Myoclonic seizure, Cerebellar edema, Rig... |
OMIM:617186 |
| Amyotrophic Lateral Sclerosis |
|
Spasticity, Motor neuron atrophy, Amyotrophic lateral sclerosis, Paralysis, Neurodegeneration |
ORPHA:803 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... |
ORPHA:420485 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... |
OMIM:607671 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Infantile spasms, Spastic tetraplegia, Cerebral atrophy, Ataxia, Generalized dystonia, Chorea, Se... |
OMIM:618321 |
| Saccharopinuria |
|
Distal sensory impairment, Spastic diplegia, Tremor, Seizure, Gait ataxia |
ORPHA:3124 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Hyperkinetic movements, Gait disturbance, Cerebellar dysplasia, Bilateral tonic-clonic seizure, T... |
ORPHA:457240 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Infantile spasms, Limb dystonia, Ataxia, Poor motor coordination, Rigidity, Chorea, Tremor, Seizu... |
ORPHA:25 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Inability to walk, Atrophy of the spinal cord, Diaphragmatic paralysis, Fasciculations, Gait dist... |
ORPHA:466768 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradyki... |
ORPHA:240085 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Seizure, Cerebellar hypoplasia, Neurodegeneration, Brain atrophy, Cereb... |
OMIM:214150 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Astigmatism, Corneal opacity, Myopic astigmatism, Microcornea |
OMIM:152950 |
| Myopathy, Mitochondrial, And Ataxia |
|
Distal sensory impairment, Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Pigmentary... |
OMIM:617675 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Hyperkinetic movements, Gait disturbance, Tremor, Seizure, Abnormal cerebellum morpho... |
OMIM:300957 |
| Myoclonic-Astatic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Abnormal pyramidal sign, Focal-onset seizu... |
ORPHA:1942 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Spasticity, Abnormal pyramidal sign, Limb ataxia, Hemiparesis, Ataxia, Abnormal autonomic nervous... |
OMIM:105210 |
| Sialidosis Type 1 |
|
Gait disturbance, Ataxia, Decreased nerve conduction velocity, Cherry red spot of the macula, Sei... |
ORPHA:812 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy |
OMIM:221800 |
| Cystathioninuria |
|
Tremor, Seizure |
ORPHA:212 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Po... |
OMIM:221900 |
| Bartsocas-Papas Syndrome 2 |
|
Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium |
OMIM:619339 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Seizure, Gait disturbance, Ataxia |
ORPHA:29822 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Parkinsonism, Broad-based gait, Shuffling gait, Tremor, Seizure, Resting tremor, Lower limb spast... |
ORPHA:3077 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Harel-Yoon Syndrome |
|
Developmental cataract, Corneal opacity |
OMIM:617183 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Progressive cerebellar ataxia, Difficulty walking, Pigmentary retino... |
ORPHA:502423 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hyperkinetic movements, Inability to walk, Cerebral atrophy, Ataxia, Difficulty walking, Speech a... |
OMIM:615356 |
| Parkinson Disease, Late-Onset |
|
Parkinsonism, Short stepped shuffling gait, Abnormal autonomic nervous system physiology, Rigidit... |
OMIM:168600 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
