Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... |
OMIM:204500 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Optic atrophy, Gait... |
ORPHA:225154 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... |
OMIM:256731 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Increased neuronal autofluorescent lipopigment, Inc... |
OMIM:204200 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocytes, Optic atrophy, Ce... |
OMIM:256730 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Clumsiness, Depre... |
ORPHA:216873 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... |
OMIM:610951 |
Combined Saposin Deficiency |
|
Generalized clonic seizure, Splenomegaly, Babinski sign, Optic atrophy, Hyperkinetic movements, M... |
OMIM:611721 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Rod-cone dystrophy, Unsteady gait, Ch... |
OMIM:301020 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Optic atrophy, Choreoathetosis, Irritability, Status epilepticus,... |
OMIM:609056 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... |
OMIM:164500 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, Generalized myoclonic seizure, Abnormal pyramidal sign, Optic atrophy, ... |
ORPHA:352596 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... |
ORPHA:95434 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc... |
OMIM:615362 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus |
OMIM:619303 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigm... |
OMIM:162350 |
Developmental And Epileptic Encephalopathy 16 |
|
Clonic seizure, Optic atrophy, Cerebral atrophy, Hemiparesis, Status epilepticus, Myoclonus, Abno... |
OMIM:615338 |
Huntington Disease-Like 1 |
|
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Depression, Mania, Basal ganglia glio... |
OMIM:603218 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... |
OMIM:600143 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ... |
OMIM:605259 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C... |
OMIM:607136 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spast... |
OMIM:258501 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Depression, Gliosis, Ne... |
OMIM:143100 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba... |
ORPHA:644 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... |
OMIM:616981 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som... |
OMIM:618876 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Ce... |
ORPHA:263516 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Optic atrophy, Seizure, Athetosis, Irritability,... |
OMIM:618241 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetr... |
OMIM:615924 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Optic... |
ORPHA:79097 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Blindness, Generalized-onset seizure, Ataxia, Increased neuronal autofluoresc... |
ORPHA:79263 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... |
ORPHA:254343 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons... |
OMIM:204300 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... |
OMIM:616230 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Developmental And Epileptic Encephalopathy 69 |
|
Cerebral visual impairment, Corpus callosum atrophy, Spastic tetraplegia, Hyperkinetic movements,... |
OMIM:618285 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure, Astrocytosis, Frontotemporal cerebral atrophy, Irritability, Abno... |
ORPHA:275864 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... |
ORPHA:204 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Frontotemporal cerebral atroph... |
ORPHA:391417 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Blindness, Cerebral atrophy, Seizure, Dystonia, Spasticity |
OMIM:617899 |
Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Cerebellar atrophy, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph... |
OMIM:613811 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neuronal loss in central nerv... |
OMIM:600795 |
Hemimegalencephaly |
|
Epileptic spasm, Optic atrophy, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, S... |
ORPHA:99802 |
Congenital Disorder Of Glycosylation, Type In |
|
Hepatomegaly, Ataxia, Reduced visual acuity, Cerebral atrophy, Seizure, Myoclonus, Recurrent lowe... |
OMIM:612015 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Visual loss, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapy... |
ORPHA:79262 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign,... |
OMIM:614322 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys... |
OMIM:614860 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... |
ORPHA:2590 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Slu... |
ORPHA:98755 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Retinopathy, Spastic ga... |
ORPHA:306511 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Inc... |
OMIM:610539 |
Cerebral Visual Impairment |
|
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Unusual CNS infection, ... |
ORPHA:447788 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens... |
ORPHA:86909 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizur... |
ORPHA:248111 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Bilateral tonic-clonic seizure, Splenomegaly, Myo... |
ORPHA:139406 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Recurrent respiratory infections, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure,... |
OMIM:618497 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Blindness, Ataxia, Retinal pigment epithelial mottling, Seizure, Corticospinal tract atrophy, Rod... |
OMIM:551500 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... |
OMIM:612319 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Cerebral cortical... |
ORPHA:98934 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Status epilepticus, Myoclonus |
OMIM:617507 |
Focal Cortical Dysplasia, Type Ii |
|
Cognitive impairment, Astrocytosis |
OMIM:607341 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Clonic seizure, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation |
OMIM:617235 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I... |
OMIM:615491 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Tremor, Chorea, Babinsk... |
OMIM:618093 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... |
ORPHA:77299 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... |
OMIM:236792 |
Sandhoff Disease |
|
Hepatomegaly, Blindness, Recurrent respiratory infections, Ataxia, Splenomegaly, Seizure, Cherry ... |
ORPHA:796 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Optic atrophy, Seizure, Severely reduced visual acuity, Spasticity |
OMIM:309555 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Upper motor neuron dysfunc... |
ORPHA:401901 |
Benign Adult Familial Myoclonic Epilepsy |
|
Generalized-onset seizure, Focal-onset seizure, Hand tremor, Myoclonus, Amaurosis fugax |
ORPHA:86814 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi... |
ORPHA:401866 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor c... |
ORPHA:79264 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Optic atrophy, Myoclonus, Cerebral atrophy |
OMIM:619057 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Epileptic spasm, Oculogyric crisis, Cerebral visual impairment, Chorea, Cereb... |
OMIM:614254 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:617282 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking, Giant... |
OMIM:613608 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus |
OMIM:125370 |
Huntington Disease |
|
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig... |
ORPHA:399 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure |
OMIM:611092 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
Creutzfeldt-Jakob Disease |
|
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Depre... |
OMIM:123400 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ... |
OMIM:616505 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasc... |
OMIM:159950 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Fasciculations, Myoclonus, Oculomo... |
OMIM:183090 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, O... |
OMIM:607196 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, D... |
ORPHA:254881 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Corpus callosum atrophy, Focal-onset ... |
ORPHA:168491 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Euphoria, Seizure, Lateral ventricle dilatation... |
OMIM:221770 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... |
OMIM:256600 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... |
ORPHA:98756 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykine... |
ORPHA:314632 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Seizure, Hemiparesis... |
ORPHA:71277 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... |
OMIM:614498 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Atrophy/Deg... |
OMIM:619971 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Meningitis, Herpes simplex encephalitis, Gliosis |
OMIM:613002 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb... |
OMIM:164400 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... |
ORPHA:98811 |
Pontocerebellar Hypoplasia, Type 2A |
|
Hypoplasia of the pons, Chorea, Optic atrophy, Opisthotonus, Seizure, Gliosis, Cerebellar hypopla... |
OMIM:277470 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Splenomegaly, Myocarditis, Lymphadenopa... |
ORPHA:83317 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... |
ORPHA:309246 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Tremor, Seizure, Abnormality of macular pigmentation, My... |
ORPHA:97229 |
Nipah Virus Disease |
|
Tremor, Recurrent pharyngitis, Seizure, Myoclonus, Infectious encephalitis |
ORPHA:99825 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... |
OMIM:616139 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clu... |
ORPHA:157941 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... |
ORPHA:363558 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... |
OMIM:617493 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Anemia, Abnormality of extrapyrami... |
OMIM:604290 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo... |
OMIM:606777 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy |
OMIM:618501 |
Cln3 Disease |
|
Cerebellar atrophy, Blindness, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, ... |
ORPHA:228346 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... |
OMIM:619780 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Seizure, Spasticity, Blindness |
ORPHA:85336 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, C... |
ORPHA:208447 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Optic disc hypoplasia, Infantile spasms, Focal-onset seizure, Ina... |
ORPHA:561854 |
Mepan Syndrome |
|
Cerebellar atrophy, Ataxia, Chorea, Optic atrophy, Cerebral atrophy, Gait disturbance, Myoclonus,... |
ORPHA:508093 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Seizur... |
OMIM:213600 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Progres... |
ORPHA:401768 |
Immunodeficiency 37 |
|
Recurrent infections, Seizure, Colitis, Status epilepticus, Decreased proportion of central memor... |
OMIM:616098 |
Diaminopentanuria |
|
Ataxia, Cystinuria, Seizure, Hyperlysinuria, Neurodegeneration, Spasticity |
OMIM:222350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Frontal cortical atrophy |
OMIM:300699 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
L-2-Hydroxyglutaric Aciduria |
|
Seizure, Abnormality of extrapyramidal motor function, Infectious encephalitis, Spastic tetraparesis |
ORPHA:79314 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Cach Syndrome |
|
Cerebellar atrophy, Blindness, Optic atrophy, Renal hypoplasia, Cerebral atrophy, Dysmetria, Trun... |
ORPHA:135 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Babinski sign, Optic ... |
OMIM:618770 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity, Cerebral cortical atrophy |
OMIM:617065 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Seizure, Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Cerebral visual impairment, Seizure, Myoclonus, Dystonia, Spasticity |
OMIM:617829 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... |
ORPHA:485350 |
Alpers-Huttenlocher Syndrome |
|
Blindness, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoatheto... |
ORPHA:726 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Optic atrophy, Seizure, Pigmentary retinopathy, Myoclonus, Truncal ataxia,... |
OMIM:252011 |
Crigler-Najjar Syndrome |
|
Seizure, Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, S... |
OMIM:610217 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Hepatomegaly, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal p... |
ORPHA:363400 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy |
OMIM:212840 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, Focal tonic seizure, Cerebral atrophy, Athetosis, Generalized tonic se... |
OMIM:615473 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, A... |
ORPHA:98759 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... |
ORPHA:98768 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... |
OMIM:619028 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Constriction of peripheral visu... |
OMIM:613861 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Blindness, Incoordination, Ataxia, Dystonia, Visual loss, Optic atrophy, Dysmetria, Gait ataxia, ... |
OMIM:601338 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Leukocytosis, Optic atrophy, Clumsiness, Choreoathe... |
OMIM:615673 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis |
OMIM:300857 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm... |
OMIM:308240 |
Polymyoclonus, Infantile |
|
Irritability, Ataxia, Myoclonus |
OMIM:263550 |
Behr Syndrome |
|
Cerebellar atrophy, Blindness, Ataxia, Tremor, Babinski sign, Optic atrophy, Hypoplastic optic ch... |
OMIM:210000 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... |
ORPHA:448237 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... |
OMIM:620352 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-... |
OMIM:618917 |
Macular Dystrophy, Patterned, 1 |
|
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:169150 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... |
OMIM:612016 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... |
OMIM:613731 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Optic atroph... |
ORPHA:95 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Seizure, Abnormality of extrapyramidal motor functio... |
OMIM:604218 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Scotoma, Tremor, Optic atrophy, Reduced visual acuity, Abnormality of extrapyr... |
OMIM:165300 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Spastic tetraple... |
OMIM:617864 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... |
OMIM:619606 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Seizure, Herpes simplex encephalitis |
OMIM:616532 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, Abnormal py... |
OMIM:308350 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Typhoid |
|
Hepatomegaly, Ataxia, Skin rash, Tremor, Splenomegaly, Hypertonia, Infectious encephalitis |
ORPHA:99745 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Optic atrophy |
OMIM:271930 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, N... |
OMIM:615889 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropenia, An... |
ORPHA:289916 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Focal motor status epilepticus, Focal-onset seizure, Chorea, Poor coordination, Seizure, ... |
OMIM:619150 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Chorea, Benign Hereditary |
|
Chorea, Frequent falls, Gait disturbance |
OMIM:118700 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... |
OMIM:618982 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... |
OMIM:607346 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Cerebral visual impairment, Babinski sign, Spastic tetraplegia, Cerebral ... |
OMIM:619847 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni... |
OMIM:615851 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Epileptic spasm, Cerebral visual impairment, Partial agenesis of the corpus c... |
ORPHA:500144 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc... |
ORPHA:139485 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... |
ORPHA:42642 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic mo... |
OMIM:619738 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Athetosis, Complex ... |
ORPHA:31709 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Vitritis, Hepatitis, Bronchiectasis... |
ORPHA:1163 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Seizure, Myoclonus |
OMIM:217200 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Neurogenic bladder, Epileptic spasm, Cerebral visual impairment, Optic a... |
OMIM:617669 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Blindness, Generalized dystonia, Bilateral tonic-clonic seizure... |
ORPHA:354 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... |
ORPHA:100070 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Hypertonia, Gli... |
OMIM:225753 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Retinal telangiectasia, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Blindness, Spastic tetraparesis, Visual loss, Poor coordination, Optic ... |
ORPHA:391428 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Emotional lability, Chorea, Gait disturbance |
OMIM:607674 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Progressive spastic paraparesis, C... |
ORPHA:506353 |
Migraine, Familial Hemiplegic, 3 |
|
Blindness, Hemiparesis, Seizure, Photophobia, Hemiplegia |
OMIM:609634 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the ... |
ORPHA:845 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms |
ORPHA:3451 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... |
OMIM:608051 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Wide anterior fontanel, Myoclonic seizure, Hypertonia, Myoclonus |
OMIM:618240 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Rift Valley Fever |
|
Uveitis, Photophobia, Decerebrate rigidity, Infectious encephalitis, Paralysis, Hepatitis, Macula... |
ORPHA:319251 |
Early Myoclonic Encephalopathy |
|
Recurrent respiratory infections, Infantile spasms, Focal seizure with eyelid myoclonia, Focal to... |
ORPHA:1935 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Blindness, Ataxia, Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Spasticity |
OMIM:618225 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Seizure, 3-Methylglutaconic aciduria, Infectious encephalitis, Cerebra... |
ORPHA:1194 |
Listeriosis |
|
Liver abscess, Tremor, Granulomatosis, Conjunctivitis, Cholecystitis, Meningitis, Infectious ence... |
ORPHA:533 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity |
OMIM:545000 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Blindness, Seizure, Nephronophthisis, Retinal degeneration |
OMIM:614845 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Seizure, Irritability, Hypertonia, Myoclonus |
OMIM:261630 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Seizure, Abnormality of extrapyra... |
ORPHA:79279 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Irritability, H... |
OMIM:617290 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait di... |
OMIM:615643 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Ph... |
OMIM:204000 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Sydenham Chorea |
|
Chorea, Unsteady gait, Irritability, Hemiballismus, Emotional lability |
ORPHA:306731 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s... |
ORPHA:725 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Axonal degeneration, Impaired distal vibration sensat... |
OMIM:208920 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Babinski sign, Seizure, Gait disturbance, Myoclonus, Apraxia, Cerebral cortical ... |
OMIM:618193 |
Glycine Encephalopathy 1 |
|
Seizure, Agenesis of corpus callosum, Hyperglycinuria, Myoclonus |
OMIM:605899 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Chorea, Spastic tetraplegia, Seizure, Athetosis, Cerebellar hypoplasia, Cereb... |
OMIM:619922 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Spasticity, Cerebral cortical atrop... |
OMIM:300438 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia, Retinal degeneration |
OMIM:257970 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Optic neuropathy, Poor coordination, Axonal degeneration, Neurode... |
ORPHA:478029 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... |
OMIM:612736 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... |
ORPHA:540 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking |
OMIM:619191 |
Schindler Disease, Type I |
|
Seizure, Spasticity, Optic atrophy, Myoclonus |
OMIM:609241 |
Retinitis Pigmentosa 29 |
|
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Aceruloplasminemia |
|
Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involu... |
ORPHA:48818 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Chorea, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Ataxia, Depression, Limb fasciculations, Spastic paraparesis, Oli... |
OMIM:615157 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Skin rash, Splenomegaly, Jaund... |
OMIM:603553 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Canavan Disease |
|
Epileptic spasm, Blindness, Bilateral tonic-clonic seizure, Optic atrophy, Elevated urinary N-ace... |
OMIM:271900 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Seizure, ... |
OMIM:617854 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Blindness, Megaloblastic anemia, Cerebral atrophy, Methylmalonic aciduria, Sei... |
OMIM:236270 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... |
OMIM:601104 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, Ankle clon... |
ORPHA:284289 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular dystrophy, Blindness, Reduced visual acuity |
OMIM:601553 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Chorioretinal atrophy |
OMIM:136900 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Depression, Athetosis |
OMIM:615483 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Amblyopia, Tremor, Abnormal pyramidal sign, Hypermetropia, Eyelid myoclon... |
OMIM:618060 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Ga... |
ORPHA:500180 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Depression, Bradyki... |
OMIM:221820 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ... |
ORPHA:101112 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Blindness, Recurrent upper respiratory tract infections, Optic atrophy, Seizure, Lateral ventricl... |
ORPHA:3078 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Myopia, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis |
OMIM:616286 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor ... |
OMIM:614487 |
Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor |
ORPHA:53372 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Spasticity, Agenes... |
OMIM:618238 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Neurodegeneration, Gait disturbance,... |
ORPHA:79244 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic... |
OMIM:245200 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Blindness, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyrami... |
OMIM:272750 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... |
OMIM:136550 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Epilepsia partialis continua, Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy,... |
OMIM:618567 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... |
ORPHA:97341 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk... |
OMIM:614298 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Thrombocytopenia, Tetraplegia, Lymphadenopathy, Sei... |
OMIM:267700 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Myopia, Hypoplasia of penis, Blindness, Recurrent urinary tract infections, Abnormal hemoglobin, ... |
ORPHA:847 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... |
ORPHA:382 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Rigidity, Head titubation, Babin... |
OMIM:608804 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Blindness, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Partial agenesis of the corp... |
ORPHA:79243 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... |
ORPHA:2382 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonism, Head titubati... |
ORPHA:300605 |
Hartnup Disease |
|
Abnormal urinary color, Ataxia, Skin rash, Abnormality of vision, Seizure, Photophobia, Infectiou... |
ORPHA:2116 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Chorea, Cer... |
OMIM:616672 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... |
ORPHA:71213 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Proteinuria, Recurrent myoglobinuria,... |
OMIM:607426 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Cerebral visual impairment, Foca... |
OMIM:615859 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Focal-onset seizure, Chorea, Convulsive status epilepticus |
OMIM:618760 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... |
OMIM:617406 |
Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Seizure, Myoclonus, Neuronal loss in central nervous system |
OMIM:260565 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia |
OMIM:612390 |
Severe Canavan Disease |
|
Blindness, Bilateral tonic-clonic seizure, Babinski sign, Optic atrophy, Seizure, Decerebrate rig... |
ORPHA:314911 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathet... |
OMIM:617964 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:204100 |
Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Ataxia, Splenomegaly, Mediastinal lymphadenopathy, Myocardi... |
ORPHA:3452 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... |
OMIM:614181 |
Cimdag Syndrome |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Ataxia, Chorea, Cerebral atrophy, Seizure, Ponto... |
OMIM:619273 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Blindness, Ataxia, Spastic paraplegia, Optic atrophy, Renal hyp... |
ORPHA:254913 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia, Agenesi... |
OMIM:312170 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Oculomotor... |
OMIM:612438 |
Japanese Encephalitis |
|
Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Neutrop... |
ORPHA:79139 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... |
OMIM:604393 |
C1Q Deficiency 3 |
|
Discoid lupus rash, Recurrent bacterial meningitis |
OMIM:620322 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Involuntary movements, Paroxysmal dyskinesia |
OMIM:611031 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Seizure, Cerebellar hypoplasia,... |
OMIM:619422 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness, Abnormality of macular pigmentation |
OMIM:610612 |
Huntington Disease-Like 3 |
|
Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of ... |
OMIM:604802 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni... |
ORPHA:13 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Seizure, Hypertonia, Myoclonus, Anemia |
OMIM:610090 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Aminoaciduria, Myoclonus, Truncal ataxia, ... |
OMIM:250620 |
Legionnaires Disease |
|
Renal insufficiency, Pericarditis, Proteinuria, Ataxia, Splenomegaly, Jaundice, Recurrent pharyng... |
ORPHA:549 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... |
OMIM:607483 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Reduced ... |
OMIM:611302 |
Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
Huntington Disease-Like 3 |
|
Caudate atrophy, Extrapyramidal muscular rigidity, Broad-based gait, Chorea, Abnormal pyramidal s... |
ORPHA:157946 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetr... |
ORPHA:313772 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness, Spastic paraplegia |
OMIM:302700 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Narcolepsy Type 1 |
|
Transient global amnesia, Obesity |
ORPHA:2073 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizur... |
OMIM:618356 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia |
OMIM:619065 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Benign Familial Neonatal Epilepsy |
|
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... |
ORPHA:1949 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Copper accumulation in liver, Cer... |
OMIM:614946 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy, Agenesis of ... |
ORPHA:85179 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... |
OMIM:607921 |
3-Methylglutaconic Aciduria, Type Ix |
|
Epileptic spasm, Clonus, Optic atrophy, Cerebral atrophy, Choreoathetosis, Seizure, Hypertonia, S... |
OMIM:617698 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula... |
ORPHA:90050 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hypoplasia of the pons, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonus... |
OMIM:614969 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... |
OMIM:615122 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Ataxia, P... |
OMIM:234200 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Blindness, Megaloblastic anemia, Poor coordination, Cerebral atrophy, Seizure, Homocystinuria |
OMIM:250940 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Chorea, Seizure, Athetosis, Focal sensory seizure |
ORPHA:98809 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Ataxia, Reduction of oligodendroglia, Tremor, Head titubation, Inability to wal... |
OMIM:312080 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Renal insufficiency, Abnormal pyramidal sign, ... |
ORPHA:445038 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... |
ORPHA:414 |
Hyperekplexia 4 |
|
Seizure, Hypertonia, Myoclonus, Cerebral atrophy |
OMIM:618011 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:617123 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Slurred speech, Seizure, Myoclonus, Nonprogressive cerebellar ataxia, Nephri... |
ORPHA:3327 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Optic atrophy, Reduced visual acuity, Gait ataxia, Hepatosplenomegaly, Pro... |
ORPHA:466794 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Splenomegaly, Slurred speech, Seizure, Gait ... |
ORPHA:812 |
Retinitis Pigmentosa 35 |
|
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Nasu-Hakola Disease |
|
Chorea, Acute leukemia, Seizure, Irritability, Oculomotor apraxia, Spasticity, Cerebral cortical ... |
ORPHA:2770 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... |
OMIM:618088 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensor... |
OMIM:604484 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... |
OMIM:180100 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Primary Angiitis Of The Central Nervous System |
|
Abnormal visual field test, Ataxia, Parkinsonism, Paralysis, Paraparesis, Diplopia, Reduced visua... |
ORPHA:140989 |
Butyrylcholinesterase Deficiency |
|
Chronic infection, Abnormality of the liver, Paralysis |
ORPHA:132 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Ataxia, Involuntary movements, Severe parainfluenza infection, Disseminated vira... |
ORPHA:83597 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Optic atrophy, Seizure, Status epilepticus, Neurodegeneration, Gliosis, Spast... |
OMIM:616239 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Depression... |
ORPHA:309271 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Ataxia, Chorea, Babinski sign, Axonal degeneration, Ce... |
OMIM:604168 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Retinal dystrophy, ... |
ORPHA:464282 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Paralysis |
OMIM:605285 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Gliosis, Myoclonus, Gait distur... |
OMIM:168601 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega... |
ORPHA:309155 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, H... |
ORPHA:289266 |
Usher Syndrome Type 1 |
|
Ataxia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, High hypermet... |
ORPHA:231169 |
Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Tonic seizure, Chorea, Babinski sign, C... |
OMIM:612389 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy... |
OMIM:607596 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... |
OMIM:312600 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Hemiparesis, Seizure, Chorioretinal coloboma, Infectious enc... |
ORPHA:2481 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Retinal degeneration, Intention tremor, P... |
ORPHA:157850 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Nyctalopia, Reduced visual acuity, Spasticity, Micropenis |
OMIM:610156 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... |
OMIM:612657 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Cerebral atrophy... |
OMIM:618877 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Myoclon... |
OMIM:616732 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... |
ORPHA:139402 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Emotional lability, Obesity |
OMIM:309585 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious encephalit... |
OMIM:300755 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness, Clonus, Recurrent pneumonia, Tetraplegia, Oligosacchariduria, Seizure, Spasticity, Cer... |
ORPHA:3137 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Chorea, Dysmetria, Seizure, Spasticity, Cerebellar vermis atrophy |
OMIM:617931 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei... |
OMIM:300894 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Cerebral visual impairment, Generalized non-motor (absence) seizure, Occipital ... |
ORPHA:411986 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit... |
ORPHA:2552 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Urinary incontinence, Seizure, Myoclonus, Dystonia, Spasticity |
OMIM:620094 |
Behçet Disease |
|
Myositis, Abnormal pyramidal sign, Photophobia, Meningitis, Infectious encephalitis, Ataxia, Acne... |
ORPHA:117 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Seizure, Difficulty walking, Astrocytosis |
OMIM:611087 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxi... |
OMIM:618321 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Loss of ambulation, ... |
ORPHA:93399 |
Isolated Succinate-Coq Reductase Deficiency |
|
Blindness, Generalized myoclonic seizure, Ataxia, Spastic tetraparesis, Babinski sign, Reduced vi... |
ORPHA:3208 |
Meningococcal Meningitis |
|
Papilledema, Renal insufficiency, Skin rash, Photophobia, Seizure, Infectious encephalitis |
ORPHA:33475 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... |
OMIM:617433 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... |
OMIM:613428 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... |
OMIM:615147 |
Pontocerebellar Hypoplasia Type 4 |
|
Seizure, Hypertonia, Myoclonus |
ORPHA:166063 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia, Blindness |
OMIM:610623 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Retinal pigment epithelial mottling, Hy... |
OMIM:607459 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... |
OMIM:608030 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... |
OMIM:608133 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Choroideremia |
|
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... |
ORPHA:180 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Blindness, Generalized dystonia, Spasticity, Opisthotonus, Pigmentary retinopa... |
ORPHA:216866 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Rod-cone dystrophy, Limb hypertonia |
OMIM:618247 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Splenomegaly, Dense calcifications in the ... |
ORPHA:90324 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:613758 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chore... |
ORPHA:25 |
D-Glyceric Aciduria |
|
Cerebral visual impairment, Chorea, Hyperglycinuria, Seizure, Myoclonus, Brain atrophy, Spasticity |
ORPHA:941 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Optic atrophy, Tetraplegia, Cerebral atrophy,... |
OMIM:616034 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Seizure, Recurrent respiratory infections, Myoclonus, Dysmetria |
OMIM:618251 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, ... |
ORPHA:206436 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Pneumocystis carinii pneumonia, Absence... |
OMIM:308230 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect |
OMIM:607476 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... |
OMIM:613794 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus |
OMIM:254800 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Infantile spasms, Chorea, Choreoathetosis, Seizure, Athetosis |
OMIM:309541 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Obesity |
OMIM:615990 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia... |
OMIM:617281 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia |
ORPHA:324588 |
Retinitis Pigmentosa 89 |
|
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Micronodular cirrhosis, He... |
OMIM:618955 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Seizur... |
OMIM:220120 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity, Cerebral cortica... |
OMIM:618201 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Ataxia, Limb tremor, Decreased liver function, Brain ... |
OMIM:614877 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Opto-chiasmatic atrophy,... |
OMIM:620089 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depre... |
OMIM:137440 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegen... |
OMIM:203700 |
Atypical Rett Syndrome |
|
Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to walk, Limb... |
ORPHA:3095 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Irritability, Hypert... |
ORPHA:238455 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Cysticercosis |
|
Retinal detachment, Abnormal optic chiasm morphology, Generalized-onset seizure, Ataxia, Focal-on... |
ORPHA:1560 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Abnormal optic nerve morphology, Gliosis, Neutropenia, Agenesis of corpu... |
ORPHA:506 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... |
OMIM:616079 |
Lyme Disease |
|
Uveitis, Photophobia, Arthritis, Meningitis, Infectious encephalitis, Amaurosis fugax |
ORPHA:91546 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myocarditis, Hepatitis... |
ORPHA:292 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... |
OMIM:614180 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... |
ORPHA:363722 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Axonal degenerati... |
OMIM:614436 |
Alexander Disease |
|
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus morphology, Palat... |
OMIM:203450 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blep... |
ORPHA:157846 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... |
OMIM:616394 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Blindness, Ataxia, Tremor, Visual loss, Slurred speech, Spastic diplegia, ... |
ORPHA:206443 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... |
OMIM:613341 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Chorea, Diplopia, Abnormal pyramidal sign, Tetraplegia, Seizure, Spastici... |
ORPHA:58 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Recurrent pneumonia, Neutropenia, Cerebral atrophy, Opisthoto... |
OMIM:616271 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... |
OMIM:612126 |
Retinitis Pigmentosa 18 |
|
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... |
OMIM:601414 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Blindness, Hydroureter, Megaloblastic anemia, Optic atrophy, Seizure, Neutr... |
OMIM:598500 |
Adrenoleukodystrophy |
|
Blindness, Incoordination, Urinary incontinence, Paraparesis, Visual loss, Spastic paraplegia, Sl... |
OMIM:300100 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... |
ORPHA:139431 |
Pandas |
|
Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritability, Emotional lability,... |
ORPHA:66624 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Generalized myo... |
OMIM:231000 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Photophobia, Abnormal retinal morphology o... |
ORPHA:251004 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Unsteady gait, Seizure, Hypertonia, Status epilepticu... |
ORPHA:79096 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Optic atrophy, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity |
OMIM:614299 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Microcytic anemia, Chorea,... |
OMIM:618451 |
Incontinentia Pigmenti |
|
Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Skin rash, Retinal vascular ... |
ORPHA:464 |
Microcephaly-Capillary Malformation Syndrome |
|
Infantile spasms, Spastic tetraparesis, Optic atrophy, Cerebral atrophy, Seizure, Myoclonus |
OMIM:614261 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Poliomyelitis |
|
Paralysis, Paraparesis, Meningitis, Hyperkinetic movements, Fasciculations, Myelitis, Infectious ... |
ORPHA:2912 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... |
OMIM:613954 |
Sarcosinemia |
|
Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Tetraparesis, Hypersarcosinuria, Congenita... |
ORPHA:3129 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Scotoma, Pneumonia, Keratitis, Lymphad... |
ORPHA:31204 |
Developmental And Epileptic Encephalopathy 78 |
|
Cerebral palsy, Inability to walk, Chorea, Seizure, Status epilepticus, Spasticity |
OMIM:618557 |
Phosphoserine Aminotransferase Deficiency |
|
Seizure, Hypertonia, Myoclonus |
OMIM:610992 |
Lafora Disease |
|
Ataxia, Focal sensory seizure with visual features, Depression, Seizure, Gait disturbance, Myoclo... |
ORPHA:501 |
Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Cerebral atrophy, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis |
ORPHA:3386 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Blindness, Ataxia, Urinary incontinence, Ring scotoma, R... |
OMIM:609033 |
Brucellosis |
|
Liver abscess, Chorea, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious ence... |
ORPHA:1304 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Ataxia, Myoclonus |
OMIM:560000 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Infectious encephalitis, ... |
ORPHA:73263 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... |
OMIM:600852 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Diplopia, Babinski sign, Blurred vision, Truncal ataxia, Dysmetria, Hand tremor, Limb ata... |
ORPHA:276198 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Depression, Neurodegeneration, Em... |
ORPHA:803 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor |
ORPHA:363717 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetria, Seizure, At... |
OMIM:617302 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Blindness, Abnormal retinal vascular mo... |
ORPHA:791 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Gliosis, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cone/cone-rod dystroph... |
ORPHA:404454 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Seizure, Hypertonia, Visual impair... |
ORPHA:141 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Slurred speech, Seizure, Myoclonus, Nephritis, Thrombocytopenia |
OMIM:274240 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Involuntary movements, Parkinsonism, Depression, Choreoathetosis, Seizure |
OMIM:616413 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Seizure, Bull's eye maculopathy, Myoclonus, Cerebral atrophy |
OMIM:620167 |
Macular Dystrophy, Retinal, 4 |
|
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... |
OMIM:619977 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Seizure, Spasticity |
OMIM:617664 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni... |
ORPHA:352582 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent ski... |
OMIM:620210 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Sim... |
ORPHA:2524 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia |
ORPHA:640 |
Alzheimer Disease 3 |
|
Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor funct... |
OMIM:607822 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... |
OMIM:180104 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Chorea, Ataxia |
OMIM:618683 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Respiratory paralysis, Paralysis, Elevated urinary delta-aminolevulinic acid |
OMIM:612740 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Elevated urinary 4-hydroxybutyric acid, Bilateral tonic-clonic seizure, Ataxi... |
OMIM:271980 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A... |
ORPHA:909 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... |
OMIM:619913 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... |
OMIM:614186 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Hemiplegia/hemiparesis, Nyctalopia, Functional abnormality of t... |
ORPHA:2571 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Optic atrophy, Abnormal pyramidal sig... |
OMIM:616680 |
Optic Pathway Glioma |
|
Papilledema, Blindness, Visual loss, Optic atrophy, Reduced visual acuity, Visual field defect, S... |
ORPHA:2086 |
Optic Atrophy 1 |
|
Ataxia, Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centroc... |
OMIM:165500 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo... |
ORPHA:420492 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Blindness, Bilateral tonic-clonic seizure, Urinary in... |
OMIM:268800 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Chediak-Higashi Syndrome |
|
Tremor, Photophobia, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Impaired ... |
OMIM:214500 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ... |
OMIM:619725 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Hemiparesis, Seizure, Status epilepticus, Cerebellar hypoplasia, Cereb... |
OMIM:618004 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Amblyopia, Hand tremor, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Usher Syndrome, Type Iiia |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect |
OMIM:276902 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Depression, Seizure, Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:163921 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Axonal degeneration, Impaire... |
ORPHA:88628 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Myopia, Hepatomegaly, Abnormal chorioretinal morphology, Vis... |
ORPHA:5 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Tremor, Chorea, Impaired distal vi... |
OMIM:606002 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision |
OMIM:614494 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Seizure, Yellow/wh... |
ORPHA:93400 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
ORPHA:206594 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment |
ORPHA:459033 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Focal-onset seizure, Optic atrophy, Spastic tetraplegia, Chiari type I malforma... |
OMIM:618476 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Micropenis, Visual ... |
ORPHA:75858 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Spastic tetraparesis, Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus |
ORPHA:284417 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Lower limb spasticity, Optic disc pallor, Generalized-onset seizure, Optic ne... |
OMIM:618249 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Blindness, Sinusitis, Ataxia, Pneumonia, Pustule, Visual loss, Diplopia, ... |
ORPHA:68 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Recurrent urinary tract infections, Ataxia, Generalized clonic seizure, Tr... |
OMIM:619229 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Absence seizure with eyelid myoclonia, Ataxia, Megaloblastic anemia, ... |
OMIM:613839 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Distal sensory impairment, Paralysis |
OMIM:613710 |
Retinitis Pigmentosa 6 |
|
Recurrent respiratory infections, Constriction of peripheral visual field, Chorioretinal degenera... |
OMIM:312612 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e... |
ORPHA:779 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Substantia ... |
ORPHA:276244 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Ataxia, Diplopia, Slurred speech, Reduced visual acuity, Photophobia, Seizure... |
ORPHA:209967 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Nyctalopia, Abnormal... |
ORPHA:96 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Nyctalopia, Jaundice, Biliary tract ab... |
ORPHA:79301 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Hepatomegaly, Ketonuria, Ataxia, Lacticaciduria, Seizure, Myoclonus, Aspiratio... |
OMIM:619167 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Diffuse cerebral atrophy |
ORPHA:2898 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... |
OMIM:618220 |
Infantile Refsum Disease |
|
Hepatomegaly, Constriction of peripheral visual field, Ataxia, Nyctalopia, Optic atrophy, Seizure... |
ORPHA:772 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... |
OMIM:105400 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... |
OMIM:616517 |
Retinitis Pigmentosa 92 |
|
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... |
OMIM:619614 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A... |
OMIM:300310 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness, Optic atrophy |
ORPHA:2787 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Optic a... |
ORPHA:72 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:606068 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... |
OMIM:267760 |
Retinitis Pigmentosa 40 |
|
Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b... |
OMIM:613801 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Seizure, Blindness, Infantile spasms, Colpocephaly |
OMIM:618731 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls, Ce... |
OMIM:619054 |
Retinitis Pigmentosa 85 |
|
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity |
OMIM:618345 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Epileptic spasm, Myoclonus, Cerebral atrophy |
OMIM:619060 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Chorea, Seizure, Spasticity |
ORPHA:70472 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:613582 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Cavitary Optic Disc Anomalies |
|
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect |
OMIM:611543 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Paraparesis, Thrombocytopenia, Optic atrophy, Choreoathetosis, Seizure... |
ORPHA:27 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Cerebral visual impairment, Seborrheic... |
OMIM:301072 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... |
OMIM:613464 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Blindness, Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal si... |
ORPHA:35069 |
Adiposis Dolorosa |
|
Obesity, Depression |
OMIM:103200 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... |
ORPHA:97355 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Blindness, Bilateral tonic-clonic seizure, Constriction of peripheral visual fie... |
OMIM:300578 |
Exudative Vitreoretinopathy 4 |
|
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... |
OMIM:601813 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... |
ORPHA:436274 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Ch... |
OMIM:300260 |
Sneddon Syndrome |
|
Tremor, Seizure, Chorea, Hemiparesis |
ORPHA:820 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... |
OMIM:616108 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Seizure,... |
OMIM:614922 |
Osteopetrosis, Autosomal Recessive 2 |
|
Blindness, Extramedullary hematopoiesis, Pancytopenia, Osteomyelitis, Mandibular osteomyelitis, T... |
OMIM:259710 |
Cinca Syndrome |
|
Hepatomegaly, Blindness, Abnormality of neutrophils, Retrobulbar optic neuritis, Splenomegaly, Le... |
ORPHA:1451 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evo... |
OMIM:607876 |
Parkinsonian-Pyramidal Syndrome |
|
Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki... |
ORPHA:171695 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... |
OMIM:613970 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Hemiplegia |
OMIM:614820 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements, Infantile spasms, Cerebral atrophy, Cerebral visual impairment |
OMIM:618374 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Stage 5 chronic kidney disease, Cer... |
OMIM:619609 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... |
OMIM:600059 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Irritability, Spasticity, Hypoplasia of the pons |
OMIM:614249 |
Chromosome Xq21 Deletion Syndrome |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... |
OMIM:303110 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Rigidity, Splenomegaly, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coordination,... |
ORPHA:309854 |
Usher Syndrome Type 3 |
|
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia |
ORPHA:231183 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Seizure, Spasticity, Optic atrophy, Blindness |
OMIM:603896 |
Bardet-Biedl Syndrome 4 |
|
Nyctalopia, Rod-cone dystrophy, Renal cyst, Retinal degeneration |
OMIM:615982 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... |
OMIM:270200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Nyctalopia, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Ne... |
OMIM:615630 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalit... |
ORPHA:391487 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Seizure, Gait disturbance, Spasticity, Cerebral cortical ... |
ORPHA:702 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Abnormality of vision, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor ... |
ORPHA:1020 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Infantile spasms,... |
ORPHA:333 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, Gait ataxia, Seizure, Myoc... |
OMIM:103050 |
Retinitis Pigmentosa |
|
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... |
OMIM:268000 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Nyctalopia, Renal fibro... |
OMIM:618161 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Blindness, Ataxia, Nyctalopia, Vestibular areflexia,... |
ORPHA:886 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Retinal dystrophy |
OMIM:607475 |
Fleck Retina, Familial Benign |
|
Nyctalopia, Retinal flecks, Visual impairment |
OMIM:228980 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Blindness, Ataxia, Central scotoma, Optic atrophy, ... |
ORPHA:543470 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Abnormal cerebellar cortex morpholo... |
ORPHA:70595 |
Melas |
|
Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Opt... |
ORPHA:550 |
Joubert Syndrome 6 |
|
Blindness, Ataxia, Stage 5 chronic kidney disease, Hepatic fibrosis, Bile duct proliferation, Nep... |
OMIM:610688 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Dystonia, Athetoid cerebr... |
OMIM:618218 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Paralysis, Porphyr... |
OMIM:176200 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Blindness, Retinal dystrophy, Ataxia, He... |
ORPHA:713 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Leukopenia, T lymphocytopenia, Neutropenia, C... |
ORPHA:443811 |
Fundus Albipunctatus |
|
Nyctalopia, Retinal flecks, Fundus albipunctatus |
OMIM:136880 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Generalized-onset seizure, Loss of ability to walk in early childhood, Infantile spasms, Microcyt... |
OMIM:612073 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Ataxia, Visual loss, Babinski sign, Reduc... |
ORPHA:94147 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Neurogenic bladder, Paroxysmal dystonia, Detrusor sphincter dyssynergia, U... |
ORPHA:466722 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... |
ORPHA:225147 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Blindness, Pancytopenia, Osteomyelitis, Splenomegaly, Thrombocytopenia, Optic atrop... |
OMIM:259700 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... |
OMIM:616170 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia, Clonus, Optic atrophy, Abnormal py... |
ORPHA:370959 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progr... |
ORPHA:646 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Poor coordination, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Gait ata... |
OMIM:616878 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Blindness, Ataxia, Spastic tetraparesis, Hoffmann sign, Reduced visual acu... |
ORPHA:139396 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy |
OMIM:179840 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Splenomegaly, Optic atrophy, Choreoathetosis, Seizure, Neutropenia, Anemia |
ORPHA:79312 |
Exudative Vitreoretinopathy 5 |
|
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... |
OMIM:613310 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Renal insufficiency, Proteinuria, Skin rash, Pustule, Hemiplegia/hemiparesis, Orchi... |
ORPHA:761 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276241 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced visual acuity, Dyschro... |
OMIM:125250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Cerebellar atrophy, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Cer... |
OMIM:615356 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Optic atrophy, Gait ataxia, Sei... |
ORPHA:255210 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, As... |
ORPHA:258 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,... |
OMIM:109150 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hypopigmentation of hair, Ataxia, Obesity, Hypopigmentation of the skin, Ir... |
ORPHA:411515 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, ... |
OMIM:162500 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Recurrent pneumonia, Neurodegeneration, Gliosis, Br... |
OMIM:214150 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hypospadias, Infantile spasms, Microcytic anemia, Focal-onset seizure, Myoclonus, Tetraparesis, S... |
OMIM:618972 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... |
OMIM:617988 |
Cog8-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Seizure, Myoclonus, Atrophy/Degenerati... |
ORPHA:95428 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Cerebral visual impairment, Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic sei... |
OMIM:616973 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... |
OMIM:612949 |
Immunoneurologic Disorder, X-Linked |
|
Nyctalopia, Functional abnormality of the bladder, Spastic paraplegia |
OMIM:300076 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... |
OMIM:258870 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Attention deficit hyperactivity disorder |
OMIM:620065 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Depression, Seizure, Hyperk... |
OMIM:300957 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Vocal cord paralysis, Distal sensory impairment |
OMIM:616287 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Exaggerated startle response, Blindness, Hepatosplenomegaly, Seizure, U... |
ORPHA:79255 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... |
OMIM:193220 |
Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Anisocytosis, ... |
OMIM:618278 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, Hy... |
ORPHA:1390 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Generalized dystonia, Ataxia, Clonus, Infantile spasms, Amblyop... |
OMIM:618076 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Loss of ambulation, Decreased amplitude of sensory action po... |
ORPHA:2388 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Usher Syndrome, Type Iid |
|
Nyctalopia, Rod-cone dystrophy |
OMIM:611383 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Renal insufficiency, Generalized-onset seizure, Proteinuria, Postural tremor,... |
OMIM:254900 |
Birk-Aharoni Syndrome |
|
Macrocytic anemia, Inability to walk, Chorea, Spastic tetraplegia |
OMIM:620071 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... |
ORPHA:52427 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Seizure, Papilledema, Anemia |
OMIM:127000 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Tremor, Chorea, Poor coordination, Optic atrophy, Seizure, Cerebellar hypoplasi... |
OMIM:601808 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Congenital blindness, Hepatic steatosis |
ORPHA:436182 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... |
OMIM:615973 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Depression, Seizure, Hyperkinetic movements, Upper limb s... |
ORPHA:457240 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Cerebral atrophy, Seizure, Abnormal urinary odor, Myocl... |
ORPHA:412217 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, Conjunct... |
OMIM:601457 |
Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... |
OMIM:615058 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:619707 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Skin rash, Chorea, Generalized non-motor (absence... |
OMIM:617600 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Visu... |
ORPHA:43 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... |
OMIM:240500 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Ataxia, Hemiplegia/hemiparesis, Nyctalo... |
ORPHA:773 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Cerebellar vermis hypoplasia, Ataxia, Retinal dystrophy, Age... |
OMIM:213300 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Seizure, Blindness, Anemia |
OMIM:614514 |
Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Tremor, Reduced visu... |
OMIM:304700 |
Fatal Familial Insomnia |
|
Neuronal loss in central nervous system, Abnormal autonomic nervous system physiology, Ataxia, My... |
OMIM:600072 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Ata... |
OMIM:615816 |
Subependymal Nodular Heterotopia |
|
Focal-onset seizure, Partial agenesis of the corpus callosum, Seizure, Focal aware seizure, Limb ... |
ORPHA:101030 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun... |
ORPHA:356 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Developmental And Epileptic Encephalopathy 29 |
|
Chorea, Cerebral atrophy, Myoclonic seizure, Blepharospasm, Spasticity |
OMIM:616339 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... |
OMIM:618173 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Impaired pain sensation, Inability... |
ORPHA:99949 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Broad-based gait, Inability to walk, Axonal degenerati... |
OMIM:615490 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, Seizure, 3-Me... |
OMIM:246450 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Spastic... |
ORPHA:2715 |
Cryptococcosis |
|
Blindness, Lymphoid leukemia, Osteomyelitis, Abnormal retinal morphology, Pneumonia, Mediastinal ... |
ORPHA:1546 |
Orofaciodigital Syndrome Type 3 |
|
Cerebellar vermis hypoplasia, Focal seizure with eyelid myoclonia, Myoclonus, Oculomotor apraxia,... |
ORPHA:2752 |
Pontocerebellar Hypoplasia, Type 8 |
|
Involuntary movements, Chorea, Gait ataxia, Hypertonia, Cerebellar hypoplasia, Spasticity |
OMIM:614961 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Esophagitis, Spasticity |
ORPHA:3197 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Tay-Sachs Disease |
|
Exaggerated startle response, Blindness, Seizure, Hypertonia, Cherry red spot of the macula |
OMIM:272800 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Recurrent... |
ORPHA:314655 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Nyctalopia |
OMIM:618632 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... |
OMIM:605750 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements |
OMIM:620245 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Hypereosinophilia, Chronic tinea infection, Lymphadenopathy, C... |
OMIM:212050 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Aganglionic megacolon, Chorea, Seizure, Athetosis, Hypertonia |
ORPHA:52503 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Clonus, Babinski sign, Spastic paraplegia, R... |
OMIM:270700 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Focal-onset seizure, Lac... |
OMIM:605711 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Chorea, Athetosis, Cerebellar hypopl... |
OMIM:619435 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Exaggerated startle response, Blindness, Optic nerve hypoplasia, Clonus, Cerebra... |
OMIM:615574 |
Cinca Syndrome |
|
Papilledema, Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly,... |
OMIM:607115 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Focal impaired awareness hem... |
OMIM:620149 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... |
OMIM:610478 |
Usher Syndrome Type 2 |
|
Myopia, Ataxia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, Cereb... |
ORPHA:231178 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Cerebral atrophy, S... |
OMIM:617804 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Agammaglobulinemia, De... |
OMIM:300400 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project... |
ORPHA:2788 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:615233 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
Progressive Multifocal Leukoencephalopathy |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemiplegia/hemiparesis, Diplopia, D... |
ORPHA:217260 |
Bardet-Biedl Syndrome 3 |
|
Nyctalopia, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:600151 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Skin rash, Renal angiomyolipoma, Nyctalopia, Splenomegaly, Lymph... |
OMIM:260920 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Episodic ataxia, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, In... |
ORPHA:1934 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Ataxia, Obesity |
OMIM:245800 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Abnormal pyramidal sign, Hypertonia, Otitis media, Aspiration pneumonia, Chronic oti... |
ORPHA:581 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Bilateral tonic-clonic seizure, Babinski sign, Spasticity, Recurrent infections, Seizure, Status ... |
ORPHA:364028 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Glioma, Subretinal pigment epithelium hemorrhage, Retinal ca... |
ORPHA:790 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Blindness, Optic atrophy, Gait ataxia, Spinocerebellar atrophy, Progressive cerebellar ataxia, Sp... |
ORPHA:95433 |
Sulfite Oxidase Deficiency, Isolated |
|
Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Choreoathetosis, Hypertonia, Cerebellar... |
OMIM:272300 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Blindness, Optic atrophy, Cerebral atrophy, Hi... |
OMIM:220500 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... |
ORPHA:2131 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... |
OMIM:619777 |
Valinemia |
|
Valinuria, Hyperkinetic movements |
OMIM:277100 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Obe... |
OMIM:604360 |
Hyperekplexia 1 |
|
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures |
OMIM:149400 |
Obesity And Hypopigmentation |
|
Red hair, Overgrowth, Obesity |
OMIM:620195 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Catastrophic Antiphospholipid Syndrome |
|
Chorea, Retinal arterial occlusion, Seizure, Coombs-positive hemolytic anemia, Microangiopathic h... |
ORPHA:464343 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus |
ORPHA:324708 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... |
ORPHA:229717 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Scissor gait, Optic atrophy, Axonal degene... |
OMIM:278800 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Inability to walk, Seizure, Broad-based gait, Myoclonus |
OMIM:616158 |
Methanol Poisoning |
|
Blindness, Seizure, Abnormal optic nerve morphology, Visual impairment, Blurred vision |
ORPHA:31825 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Renal insufficiency, Cerebral palsy, Proteinuria, Ataxia, Skin rash, ... |
ORPHA:36412 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Papilledema, Anemia, Hypocalcemic seizures |
ORPHA:93325 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hepatic steatosis, Renal insufficiency, Blindness, Constriction of perip... |
OMIM:203800 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Crusting erythema... |
ORPHA:324625 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Blindness, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis... |
ORPHA:53 |
Cerebral Cavernous Malformations 3 |
|
Seizure, Paralysis |
OMIM:603285 |
Hyperekplexia 2 |
|
Myopia, Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Cohen Syndrome |
|
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,... |
OMIM:216550 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment |
OMIM:616267 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Incoordination, Hypospadias, Ataxia, Involuntary movements, Dys... |
ORPHA:209905 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Seizure, Hyperkinetic movements |
ORPHA:397933 |
Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... |
OMIM:608643 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatic steatosis, Hepatomegaly, Constriction of peripheral visual field, Gener... |
OMIM:619418 |
Leber Congenital Amaurosis 3 |
|
Visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:604232 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis |
OMIM:614198 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Seizure, Irritability, Hyperkinetic movements, Limb hypertonia |
OMIM:233910 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... |
ORPHA:3392 |
Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ... |
OMIM:252160 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Spinocerebellar Ataxia Type 3 |
|
Diplopia, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxi... |
ORPHA:98757 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Blindness, Ataxia, Abnormal erythrocyte enzyme level, Severe infection, Recurrent upper respirato... |
ORPHA:1187 |
Idiopathic Panuveitis |
|
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... |
ORPHA:280921 |
Hydranencephaly |
|
Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Spastic diplegia, Opisthotonus, Abnorma... |
ORPHA:2177 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hypertonia, Irrit... |
OMIM:261640 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... |
ORPHA:53583 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Seizure, Subcortical cerebral at... |
ORPHA:2396 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ... |
ORPHA:99956 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Generalized-onset seizure, Paralysis, Focal-onset seizure, Leukocytosis, Depression, Status epile... |
ORPHA:83601 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Seizure, Myoclonus, Cerebral atrophy |
OMIM:614462 |
Retinoblastoma |
|
Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia |
OMIM:180200 |
Developmental And Epileptic Encephalopathy 101 |
|
Seizure, Myoclonus, Opisthotonus |
OMIM:619814 |
Joubert Syndrome With Oculorenal Defect |
|
Renal insufficiency, Blindness, Retinal dystrophy, Ataxia, Seizure, Chorioretinal coloboma, Nephr... |
ORPHA:2318 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chorioretinal dysplasia, Abnormality of vision, Hypertonia, Abnormal optic nerve morphology, Reti... |
ORPHA:2526 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... |
OMIM:613756 |
Ataxia-Telangiectasia |
|
Sinusitis, Ataxia, Tremor, Decreased proportion of CD4-positive helper T cells, Slurred speech, B... |
OMIM:208900 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Decreased circulating antibody level, Conjunctivitis, Chronic... |
OMIM:616740 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Blindness, Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Optic atrophy, Abnormal pyra... |
OMIM:612199 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia |
OMIM:615181 |
Abetalipoproteinemia |
|
Dysmetria, Gait ataxia, Hepatic fibrosis, Hepatic steatosis, Hypopigmentation of the fundus, Hepa... |
ORPHA:14 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... |
OMIM:300055 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Incoordination, Patchy atrophy of the retinal pigment ep... |
ORPHA:436245 |
Developmental And Epileptic Encephalopathy 84 |
|
Epileptic spasm, Chorea, Babinski sign, Opisthotonus, Seizure, Spasticity |
OMIM:618792 |
Tick-Borne Encephalitis |
|
Speech apraxia, Elevated hepatic transaminase, Generalized-onset seizure, Incoordination, Paralys... |
ORPHA:297 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... |
OMIM:613843 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... |
OMIM:146500 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:600132 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Myopia, Blindness, Incoordination, Optic atrophy, Hypermetropia, Seizure, Sub... |
ORPHA:468678 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Choreoathetosis, Seizure, An... |
ORPHA:59 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Memory impairment, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Glioblastoma |
|
Glioblastoma multiforme, Seizure, Emotional lability, Paralysis |
ORPHA:360 |
Sturge-Weber Syndrome |
|
Retinal detachment, Blindness, Abnormal retinal vascular morphology, Optic atrophy, Abnormality o... |
ORPHA:3205 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis, Febrile seizure (w... |
OMIM:619735 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Seizure, Irritability, Hypertonia, Myoclonus, Abnormality of the autono... |
ORPHA:43116 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Seizure, Myoclonus |
OMIM:300673 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:168593 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Absent urinary u... |
OMIM:252150 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Heparan sulfate excretion in urin... |
OMIM:309900 |
Peroxisome Biogenesis Disorder 9B |
|
Constriction of peripheral visual field, Ataxia, Nyctalopia, Reduced visual acuity, Rod-cone dyst... |
OMIM:614879 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Babinski sign, Optic atrophy, Reduced visual acuity, Gait ataxia, Clumsines... |
ORPHA:309256 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613810 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... |
ORPHA:440727 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Birk-Landau-Perez Syndrome |
|
Optic atrophy, Limb ataxia, Choreoathetosis, Difficulty walking, Oculomotor apraxia, Agenesis of ... |
OMIM:617595 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Cerebellar cyst, Seizure, Hypoplasia of the retina, Retinal dyspl... |
OMIM:253280 |
Immunodeficiency 66 |
|
Pustule, Meningitis, Recurrent skin infections |
OMIM:618847 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Babinski sign, Optic atrophy, Reduced visual acuity, Clumsiness, Seizure, P... |
ORPHA:309263 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Visual loss, Gen... |
OMIM:254780 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Chorea, Depression, Seizure, Leukopenia, Retinopathy, Thrombocytopenia |
ORPHA:536 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Orthostatic tachycardi... |
ORPHA:217253 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Photophobia, Periodontitis, ... |
ORPHA:167 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Cloni... |
OMIM:619580 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Seizure, Athetos... |
OMIM:615273 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Menin... |
ORPHA:545 |
Joubert Syndrome 32 |
|
Ataxia, Tall stature, Large for gestational age |
OMIM:617757 |
Unilateral Polymicrogyria |
|
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... |
ORPHA:268943 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Focal impaired awareness seizure |
OMIM:259770 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618195 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Mcleod Syndrome |
|
Generalized-onset seizure, Acanthocytosis, Splenomegaly, Chorea, Depression, Seizure, Impaired vi... |
OMIM:300842 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Spastic hemip... |
ORPHA:20 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness, Ataxia |
OMIM:271250 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Anemia |
OMIM:184850 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Cerebral visual impairment, Sei... |
OMIM:300672 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Agenesis of corpus callosum |
OMIM:617914 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Horseshoe kidne... |
ORPHA:46059 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Dystonia, Hypospad... |
ORPHA:17 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Blindness, Abnormality of macular pigmentation |
ORPHA:1573 |
Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Depression, Paresthesia, Emotional lability, Cortical myoclonus |
ORPHA:428 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Optic disc pallor, Cerebellar atrophy, Blindness, Hypospadias, Bi... |
OMIM:252010 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation |
ORPHA:171844 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Global glomerulosclerosis, Retinal dystrophy, Macular atrophy,... |
OMIM:616307 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Hemiparesis, Seizure, Chorea |
OMIM:618829 |
Leukodystrophy, Hypomyelinating, 10 |
|
Inability to walk, Babinski sign, Cerebral atrophy, Seizure, Hyperkinetic movements, Spasticity, ... |
OMIM:616420 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation, Meningitis, High myopia |
ORPHA:1117 |
Rheumatic Fever |
|
Hemiballismus, Chorea, Gait disturbance, Fasciculations |
ORPHA:3099 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait |
ORPHA:37612 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Seizure, Progressive cerebella... |
OMIM:616640 |
Cancer-Associated Retinopathy |
|
Vitritis, Photophobia, Pancreatic adenocarcinoma, Retinal atrophy, Thymoma, Paracentral scotoma, ... |
ORPHA:71505 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Optic nerve dysplasia, Reduced visua... |
OMIM:617296 |
Arima Syndrome |
|
Hepatomegaly, Blindness, Proteinuria, Polyuria, Retinal dystrophy, Ataxia, Optic atrophy, Stage 5... |
OMIM:243910 |
Pettigrew Syndrome |
|
Cerebellar vermis hypoplasia, Optic atrophy, Gait ataxia, Choreoathetosis, Seizure, Spasticity, D... |
OMIM:304340 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Chorea, Brachial plexus neuropathy, Tip-toe gait |
ORPHA:268 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Facial palsy, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness, Ankle clo... |
OMIM:211530 |
Non-Functioning Paraganglioma |
|
Tremor, Cranial nerve compression, Hypertensive retinopathy, Vocal cord paralysis |
ORPHA:94080 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hair-pulling, Ir... |
ORPHA:447997 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cafe-au-lait spot, Increased body weight, Attention deficit hyperactivity disorder |
ORPHA:589905 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Myopia, Nyctalopia, High myopia, Rod-cone dystrophy, Cerebral cortical atrophy |
OMIM:617763 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Recurrent candida infections, T lymphocytopenia... |
ORPHA:83471 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Conjunctivitis, Myoclonic spasms, Lar... |
ORPHA:36913 |
Cranioectodermal Dysplasia 4 |
|
Nyctalopia, Recurrent pneumonia, Stage 5 chronic kidney disease, Hypermetropia, Bone marrow hypoc... |
OMIM:614378 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Cerebral atrophy, Seizure, Hypertonia... |
OMIM:618426 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis of the corpus callosum, O... |
OMIM:619653 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Myositis, Abnormal retinal morphology, Maculopapular exanthe... |
ORPHA:228119 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Refsum Disease, Classic |
|
Ataxia, Nyctalopia, Abnormal renal physiology, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Paralysis, Seizure, Urinary retention, Respiratory paralysis, Hepa... |
OMIM:176000 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Ani... |
OMIM:616959 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... |
OMIM:619649 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Aganglionic megacolon, Seizure, Gait disturbance, Myoclon... |
ORPHA:247262 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Ataxia, Hyperautofluorescent ... |
OMIM:209900 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia |
OMIM:277350 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Neurogenic bladder, Cerebral visual impairment, Optic atrophy, Reduced visual... |
OMIM:616683 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia |
OMIM:601042 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Meni... |
ORPHA:464370 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Myoclonus |
ORPHA:1352 |
Myopathy, Tubular Aggregate, 1 |
|
Nyctalopia, Frequent falls |
OMIM:160565 |
Holoprosencephaly |
|
Abnormality of the spleen, Chorea, Optic atrophy, Seizure, Chorioretinal coloboma, Aplasia/Hypopl... |
ORPHA:2162 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Multifocal seizures, Ataxia, Involuntary movements, Choreoathetosis, Status epilepticus, Spastici... |
OMIM:615905 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, Tremor, Seizure, Myoclonus, Gait imbalance |
ORPHA:98794 |
Stickler Syndrome, Type I |
|
Retinal detachment, Myopia, Blindness, Osteoarthritis, Arthritis, Vitreoretinopathy, Membranous v... |
OMIM:108300 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Blindness, Extrapyramidal muscular rigidity, Ataxia, Postural... |
ORPHA:67036 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Nyctalopia, Optic at... |
ORPHA:96180 |
Neuroblastoma, Susceptibility To, 1 |
|
Anemia, Ataxia, Myoclonus, Horner syndrome |
OMIM:256700 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Progressive neurologic deterioration |
ORPHA:276608 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... |
ORPHA:47 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... |
OMIM:216900 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Urinary incontinence, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, A... |
ORPHA:306674 |
Rett Syndrome, Congenital Variant |
|
Chorea, Seizure, Athetosis, Irritability, Apraxia, Spasticity |
OMIM:613454 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Nyctalopia, Renal cyst, Horseshoe kidney, Visual field defect, Rod-cone dystrophy, Cerebral corti... |
ORPHA:166035 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Cerebral visual impairment, Spastic tetraplegia, Seizure, Aminoaciduria, Status epileptic... |
OMIM:619055 |
Retinitis Pigmentosa 75 |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... |
OMIM:617023 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... |
OMIM:613767 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Ataxia, Visual loss, Diplopia, Mediastinal lymphadenopathy, Op... |
ORPHA:397 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first... |
OMIM:300243 |
Cystinosis, Nephropathic |
|
Photophobia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hepatomegal... |
OMIM:219800 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Cerebral visual impairment, Focal-onset sei... |
OMIM:619297 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media... |
ORPHA:809 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe... |
ORPHA:64280 |
Snakebite Envenomation |
|
Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney injury, Thrombocytopenia |
ORPHA:449285 |
Coccidioidomycosis |
|
Abnormality of the spleen, Photophobia, Abnormality of the liver, Morbilliform rash, Mediastinal ... |
ORPHA:228123 |
Toxin-Mediated Infectious Botulism |
|
Diplopia, Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
9P13 Microdeletion Syndrome |
|
Hypermetropia, Recurrent otitis media, Myoclonus, Hand tremor |
ORPHA:324313 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Neurogenic bladder, Constriction of peripheral visual field, Ataxia, Tremor, B... |
OMIM:618527 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Blindness, Bilateral tonic-clonic seizure, Hyposthenuria, Vesicoureteral refl... |
OMIM:615926 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... |
OMIM:616468 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Abn... |
ORPHA:289390 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Se... |
OMIM:236670 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Eczema, Vocal ... |
OMIM:617799 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating ferritin ... |
OMIM:616050 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Recurrent upper respiratory tract infections, Enuresis, Seizure, R... |
ORPHA:293987 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Abnormal lateral ventricle morphology, Autoimmune thro... |
ORPHA:1855 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Diplopia, Diaphragmatic paralysis, Urinary retention |
ORPHA:228371 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Blindness, Proteinuria, Poor coordination, Op... |
OMIM:610965 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Epileptic spasm, Generalized myoclonic seizure, Atax... |
ORPHA:86309 |
Hurler Syndrome |
|
Splenomegaly, Neurodegeneration, Retinal degeneration, Hepatosplenomegaly |
OMIM:607014 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia |
OMIM:615300 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Seizure, Congenital blindness, Op... |
OMIM:608688 |
Aica-Ribosiduria |
|
Seizure, Congenital blindness |
ORPHA:250977 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... |
ORPHA:169090 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration |
OMIM:615919 |
Non-Functioning Pituitary Adenoma |
|
Bitemporal hemianopia, Blindness, Anemia of inadequate production, Diplopia, Seizure, Hemianopia,... |
ORPHA:91349 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Glioma, Retinal pigment epithelial mottling, T lymphocytopenia, B ly... |
OMIM:251260 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Olivopontocerebellar hypoplasia, Optic atrophy, Seizure, Hypertonia, Myocl... |
ORPHA:284339 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Nyctalopia, R... |
OMIM:252940 |
Norrie Disease |
|
Retinal detachment, Blindness, Optic atrophy, Seizure, Retinal dysplasia, Retinal fold |
OMIM:310600 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Constriction of peripheral visual field, Proteinuria,... |
OMIM:619471 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Meningitis,... |
ORPHA:37042 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Blindness, Optic nerve dysplasia, Spasticity, Seizure, Retinal dysp... |
OMIM:615287 |
Insulinoma |
|
Abnormality of pain sensation, Transient global amnesia, Paresthesia, Increased body weight |
ORPHA:97279 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Depression, Chiari type I malformat... |
ORPHA:221098 |
Full Nf2-Related Schwannomatosis |
|
Blindness, Remnants of the hyaloid vascular system, Amblyopia, Retinal hamartoma, Epiretinal memb... |
ORPHA:637 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Pineoblastoma |
|
Seizure, Papilledema, Retinoblastoma, Paralysis |
ORPHA:251909 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Depression |
OMIM:615954 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Head titubation, Optic atrophy, Reduced visual acuity, Dysmetria, Bro... |
OMIM:619708 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Broad-based gait, Bilateral tonic-clonic seizure with generalized onse... |
ORPHA:2072 |
Adiposis Dolorosa |
|
Memory impairment, Paresthesia, Obesity, Depression |
ORPHA:36397 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Optic nerve compression, Hepatosplenomegaly, Periodic hypokalemic p... |
OMIM:259730 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy |
ORPHA:522077 |
Scorpion Envenomation |
|
Hemifacial spasm, Ketonuria, Ataxia, Elevated circulating aspartate aminotransferase concentratio... |
ORPHA:466677 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Blindness, Reduced visual acuity |
ORPHA:137599 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Blindness, Hepatomegaly, Ataxia, Optic neuropathy, Proximal tubulopathy |
ORPHA:2609 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Macular scar, Vitreous haze, Epiretinal membrane, Vitr... |
ORPHA:279914 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Blindness, Ocular albinism, Photophobia, Inflammation of the large intestine... |
OMIM:203300 |
Ethylene Glycol Poisoning |
|
Ataxia, Facial palsy, Slurred speech, Euphoria, Seizure, Myoclonus |
ORPHA:31826 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Hypertonia, Chorioretinal coloboma, Intention tremor, Ataxia, Depression,... |
OMIM:619475 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, H... |
ORPHA:468631 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Seizure, Blindness |
OMIM:603387 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Constriction of peripheral visual field, Chronic active hepatitis, Asplenia, ... |
OMIM:240300 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Blindness, Hypospadias, Chorioret... |
ORPHA:2556 |
Meningioma |
|
Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Focal-onset... |
ORPHA:2495 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Seizure, Hyperkinetic movements, Retrocerebellar cyst |
ORPHA:289522 |
Prolactinoma |
|
Bitemporal hemianopia, Blindness, Diplopia, Seizure, Hemianopia, Sudden loss of visual acuity, He... |
ORPHA:2965 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Choreoathetosis, Seizure, Progressive spastic quadriplegia, Nonprogressive ce... |
ORPHA:431361 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
ORPHA:2741 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria, Blindness, Cerebral palsy, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Joubert Syndrome 5 |
|
Ataxia, Impaired renal concentrating ability, Oculomotor apraxia, Stage 5 chronic kidney disease,... |
OMIM:610188 |
Pseudohypoparathyroidism Type 2 |
|
Laryngeal dystonia, Hypocalcemic seizures, Myoclonic spasms, Low urinary cyclic AMP response to P... |
ORPHA:94090 |
Sepsis In Premature Infants |
|
Hepatomegaly, Disseminated viral infection, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopeni... |
ORPHA:90051 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper respiratory tract... |
OMIM:253220 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Tremor, Leukocytosis, Chorea, Abnormal autonomic nervous system... |
ORPHA:94093 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Cereb... |
OMIM:619124 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations, Gait di... |
ORPHA:682 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Diplopia, Hyperkinetic movements |
ORPHA:209970 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Seizure, Hyperkinetic movements,... |
ORPHA:3166 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Blindness |
ORPHA:66625 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Periodic... |
OMIM:276700 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Blindness, Generalized dystonia |
ORPHA:79107 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... |
ORPHA:379 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Epileptic spasm, Exaggerated startle response, Involuntary movements, Cerebral... |
ORPHA:438213 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Angiostrongyliasis |
|
Diplopia, Hypereosinophilia, Unusual CNS infection, Seizure, Meningitis, Blurred vision |
ORPHA:74 |
Momo Syndrome |
|
Seizure, Blindness, Chorioretinal coloboma |
ORPHA:2563 |
Non-24-Hour Sleep-Wake Syndrome |
|
Blindness |
ORPHA:73267 |
Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
Enhanced S-Cone Syndrome |
|
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Cogan Syndrome |
|
Episcleritis, Blindness, Keratitis, Leukocytosis, Reduced visual acuity, Uveitis, Photophobia, Sc... |
ORPHA:1467 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness |
OMIM:204850 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Limb dystonia, Hypopigmentation of the fundus, Myopia, Hemolytic anemia, Hypermetropia, Seizure, ... |
OMIM:175780 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Cranial nerve compression, Babinski sign, Vocal cord pa... |
ORPHA:268882 |
Inhalational Botulism |
|
Diplopia, Urinary retention, Paralysis |
ORPHA:254504 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... |
ORPHA:93958 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Recurrent ear infections, Heparan sulfate excre... |
ORPHA:217085 |
Monosomy 18Q |
|
Astrocytoma, Abnormal retinal morphology, Poor coordination, Choreoathetosis, Seizure, Cerebellar... |
ORPHA:1600 |
Early-Onset Lafora Body Disease |
|
Seizure, Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Seizure, Vocal cord paralysis, Arthritis |
ORPHA:397744 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Tremor, Splenomegaly, Jaundice, Kerati... |
ORPHA:525731 |
Tsh-Secreting Pituitary Adenoma |
|
Bitemporal hemianopia, Abnormal visual field test, Blindness, Tremor, Diplopia, Seizure, Hemianop... |
ORPHA:91347 |
Pituitary Dermoid And Epidermoid Cysts |
|
Abnormal central motor function, Diplopia, Reduced visual acuity, Seizure, Sudden loss of visual ... |
ORPHA:91351 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... |
ORPHA:2968 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Meningitis, Ureteral stenosis, Sei... |
ORPHA:900 |
Night Blindness, Congenital Stationary, Type 1B |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... |
OMIM:257270 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Recurrent ear infections, Heparan sulfate excre... |
ORPHA:217093 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcif... |
ORPHA:73224 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Nyctalopia, Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Peripheral visual f... |
OMIM:250410 |
Dysosteosclerosis |
|
Seizure, Blindness, Facial paralysis, Optic atrophy |
OMIM:224300 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis,... |
ORPHA:342 |
Gorham-Stout Disease |
|
Lymphangioma, Torticollis, Osteomyelitis, Meningitis |
ORPHA:73 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... |
ORPHA:91495 |
Plasminogen Deficiency, Type I |
|
Blindness, Recurrent upper respiratory tract infections, Nephrolithiasis, Conjunctivitis, Periodo... |
OMIM:217090 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Ataxia, Overweight, Obesity, Memory impairment, Dementia, Mental deteriorat... |
ORPHA:2822 |
Smith-Magenis Syndrome |
|
Increased body weight, Impaired pain sensation |
OMIM:182290 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Emotional lability, Increased body weight, Depression |
OMIM:615830 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Gitelman Syndrome |
|
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Blurred vision, Enuresis, Seizure, Hypocalc... |
OMIM:263800 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Cranial nerve compression, Hypertensive retinopathy, Vocal cord paralysis |
ORPHA:276621 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Hepatomegaly... |
ORPHA:580 |
Joubert Syndrome 8 |
|
Pigmentary retinopathy, Ataxia, Obesity |
OMIM:612291 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia, Paralysis |
OMIM:612300 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis |
OMIM:267200 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Chronic lymphocytic meningitis, Neutrophilia, Ataxia, Severe periodontitis, Recurre... |
ORPHA:99843 |
Mucoepithelial Dysplasia, Hereditary |
|
Blindness, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerat... |
OMIM:158310 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Infantile spasms, Hair-pulling, Cerebral atrophy, Generalized tonic seizure |
OMIM:616393 |
Momo Syndrome |
|
Blindness, Retinal coloboma |
OMIM:157980 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Blindness, Proteinuria, Remnants of the hyaloid ... |
OMIM:609049 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of vision, Keratoconjunctivitis sicca, Blindness, Recurrent respiratory infections |
ORPHA:1806 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
OMIM:164900 |
Senior-Loken Syndrome 3 |
|
Polyuria, Visual loss, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Ne... |
OMIM:606995 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Involuntary movements, Ectopic kidney, Focal motor seizure, High myopia, Myoclonus, ... |
ORPHA:3063 |
Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision |
ORPHA:566 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Liver abscess, Unusual skin infection, Pneumonia, Abnormality ... |
ORPHA:31202 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Anuria, Acute colitis, Pneumonia, Cerebral visual impairment, Pa... |
ORPHA:544482 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,... |
ORPHA:37553 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Recurrent meningi... |
OMIM:612260 |
Wilson Disease |
|
Depression, Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Nyctalopia, Osteoarthritis |
ORPHA:1657 |
Galloway-Mowat Syndrome 9 |
|
Choreoathetosis, Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:619603 |
Arachnoiditis |
|
Abnormality of vision, Urinary bladder sphincter dysfunction, Meningitis |
ORPHA:137817 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Optic nerve hyp... |
OMIM:620330 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Spotty hypopigmentation, Increased body weight |
OMIM:300860 |
Pseudohypoparathyroidism Type 1B |
|
Conjunctivitis, Myoclonic spasms, Low urinary cyclic AMP response to PTH administration, Laryngea... |
ORPHA:94089 |
Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Depression, Memory impairment, Abdominal obesity, Cognitive impairment, Em... |
ORPHA:189427 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph... |
ORPHA:449395 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Tremor, Cranial nerve compression, Vocal cord paralysis, Retinal capill... |
ORPHA:29072 |
Opsoclonus-Myoclonus Syndrome |
|
Ataxia, Rigidity, Irritability, Myoclonus, Limb myoclonus |
ORPHA:1183 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Progressive neurologic deterioration, Large for gestational age |
ORPHA:263455 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Blindness, Hypospadias |
OMIM:601499 |
Sarcoidosis |
|
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepa... |
ORPHA:797 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralys... |
ORPHA:358 |
Pseudohypoparathyroidism Type 1A |
|
Involuntary movements, Depression, Choreoathetosis, Irritability, Paresthesia, Myoclonic spasms, ... |
ORPHA:79443 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Blindness, Keratitis, Photophobia, Keratoconjunctivitis sicca |
OMIM:148210 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Leukocytosis, Optic atrophy, Renal hypopla... |
OMIM:619321 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss |
OMIM:226960 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Blindness, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, ... |
ORPHA:79277 |
Renpenning Syndrome 1 |
|
Blindness, Hypospadias, Phimosis, Renal hypoplasia, Cerebral atrophy, Hypermetropia, Seizure, Spa... |
OMIM:309500 |
Doors Syndrome |
|
Small cerebellar cortex, Bilateral tonic-clonic seizure, Optic atrophy, Focal impaired awareness ... |
ORPHA:79500 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... |
ORPHA:79102 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Blindness, Recurrent bacterial skin infections, Splenomegaly, Red urine, Red-br... |
ORPHA:95159 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hype... |
ORPHA:18 |
Trichinellosis |
|
Skin rash, Diplopia, Babinski sign, Retinal hemorrhage, Central retinal artery occlusion, Hemipar... |
ORPHA:863 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Blindness, Myositis, Retroperitoneal fibrosis, Thyroiditis, Lymphadenopathy, Tubulointerstitial n... |
ORPHA:79078 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Erys... |
OMIM:249100 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Retinal detachment, Blindness, Myopia, Recurrent pneumonia, Bladder diverticulum, Decreased urina... |
OMIM:225400 |
Rodrigues Blindness |
|
Blindness |
OMIM:268320 |
Fuchs Endothelial Corneal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity |
ORPHA:98974 |
Norrie Disease |
|
Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula... |
ORPHA:649 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Photophobia, Hepatic fibrosis, Otiti... |
ORPHA:64 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Impaired temperature sensation, Increased body weight, Abdominal obesit... |
ORPHA:398069 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Skin rash, Pust... |
ORPHA:50918 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Photophobia, Conjunctivitis, Neutropenia, Abnormal penis morpholog... |
ORPHA:95455 |
Menkes Disease |
|
Seizure, Chorea, Hypertonia, Spasticity |
ORPHA:565 |
Pseudohypoparathyroidism Type 1C |
|
Conjunctivitis, Myoclonic spasms, Low urinary cyclic AMP response to PTH administration, Laryngea... |
ORPHA:79444 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Leptospirosis |
|
Papilledema, Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Retinal hem... |
ORPHA:509 |
Mccune-Albright Syndrome |
|
Blindness |
OMIM:174800 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Stickler Syndrome |
|
Retinal detachment, Blindness, Myopia, Recurrent respiratory infections, Hemiplegia/hemiparesis, ... |
ORPHA:828 |
Sotos Syndrome |
|
Attention deficit hyperactivity disorder, Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Depression, Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Kawasaki Disease |
|
Pericarditis, Proteinuria, Skin rash, Recurrent pharyngitis, Jaundice, Leukocytosis, Cervical lym... |
ORPHA:2331 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... |
OMIM:617718 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Visual loss, Hypoplasia of penis, Blindness, Amblyopia |
ORPHA:2250 |
Adrenocortical Carcinoma |
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Irritability, Increased body weight, Weight loss |
ORPHA:1501 |
Acute Transverse Myelitis |
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Invasive parasitic infection, Urinary incontinence, Paraparesis, Babinski sign, Severe viral infe... |
ORPHA:139417 |
Adenohypophysitis |
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Chronic lymphocytic meningitis, Diplopia, Progressive visual field defects, Normochromic anemia, ... |
ORPHA:95512 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Schinzel-Giedion Syndrome |
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Epileptic spasm, Myeloid leukemia, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, N... |
ORPHA:798 |
Saul-Wilson Syndrome |
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Nyctalopia, Neutropenia |
OMIM:618150 |
Leprosy |
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Blindness, Abnormality of the spleen, Uveitis, Abnormality of the liver, Iritis |
ORPHA:548 |
Wiskott-Aldrich Syndrome |
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Recurrent herpes, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy, Absen... |
OMIM:301000 |
Fraser Syndrome 1 |
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Blindness, Hypospadias, Renal hypoplasia, Seizure, Abnormal thymus morphology, Micropenis |
OMIM:219000 |
Joubert Syndrome 39 |
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Overweight, Pain insensitivity |
OMIM:619562 |
17Q11 Microdeletion Syndrome |
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Blindness, Abnormal central motor function, Retinal vascular proliferation, Focal-onset seizure, ... |
ORPHA:97685 |
Weill-Marchesani Syndrome 1 |
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Blindness, High myopia |
OMIM:277600 |
Monosomy 22Q13.3 |
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Impaired pain sensation, Hair-pulling, Seizure, Agenesis of corpus callosum, Cerebellar cortical ... |
ORPHA:48652 |
Weill-Marchesani Syndrome 2 |
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Blindness, High myopia |
OMIM:608328 |
Plague |
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Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Slurred spee... |
ORPHA:707 |
Cushing Disease |
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Increased body weight, Depression, Memory impairment, Truncal obesity, Abdominal obesity, Dementi... |
ORPHA:96253 |
Igg4-Related Thyroid Disease |
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Pancreatic fibrosis, Retroperitoneal fibrosis, Vocal cord paralysis, Thyroiditis, Sclerosing chol... |
ORPHA:64744 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Increased circulating IgA level, Increased body weight, Weight loss, ... |
ORPHA:2298 |
Microphthalmia, Syndromic 6 |
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Myopia, Blindness, Retinal dystrophy, Renal hypoplasia, Cerebral cortical atrophy |
OMIM:607932 |
Corneodermatoosseous Syndrome |
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Photophobia, Nyctalopia, Hemeralopia |
ORPHA:3194 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Increased body weight |
ORPHA:264580 |
Menke-Hennekam Syndrome 1 |
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Seizure, Blindness, Recurrent upper respiratory tract infections, Hypermetropia |
OMIM:618332 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Increased body weight |
ORPHA:79240 |
Fraser Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Blindness, Renal hypoplasia, Uret... |
ORPHA:2052 |
Microphthalmia, Syndromic 1 |
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Blindness, Hydroureter, Hypospadias, Optic disc coloboma, Renal hypoplasia, Spastic diplegia, Sei... |
OMIM:309800 |
Trichotillomania |
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Hair-pulling |
OMIM:613229 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Memory impair... |
ORPHA:99889 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Primrose Syndrome |
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Neurodegeneration, Seizure, Ataxia |
OMIM:259050 |
Sacral Defect With Anterior Meningocele |
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Meningitis, Neurogenic bladder, Urinary retention |
OMIM:600145 |
Carney Complex |
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Increased body weight, Abdominal obesity, Multiple lentigines, Multiple cafe-au-lait spots, Spott... |
ORPHA:1359 |